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Thyroid nodule

A thyroid nodule is a discrete within the gland, defined as an abnormal growth of thyroid cells that forms a lump, which may be solid, fluid-filled (cystic), or a combination of both. Located at the base of the just below the , the gland produces hormones that regulate , and nodules are highly prevalent, affecting approximately 50% of individuals by age 60, with detecting them in 20-76% of the population. Over 90% of thyroid nodules are benign, but a small proportion—about 4-6.5% overall—may be cancerous, necessitating careful evaluation to distinguish malignant from non-malignant growths. The causes of thyroid nodules are often multifactorial and not fully understood, but they commonly arise from an overgrowth of normal thyroid tissue (such as adenomas or nodules), fluid-filled cysts, or multinodular goiters where multiple nodules develop in an enlarged . Less frequently, they result from chronic inflammation like or, in iodine-deficient regions, compensatory , though is rare in iodine-sufficient areas like the . Risk factors include female sex (nodules are four times more common in women), exposure to (especially in childhood), family history of thyroid or endocrine cancers, , and , while factors like oral contraceptive use and statins may offer protective effects. Malignant nodules are more likely in men and those with rapid growth or suspicious features such as microcalcifications, irregular margins, or hypoechogenicity. Most thyroid nodules are asymptomatic and discovered incidentally during routine physical exams or imaging for unrelated issues, but larger nodules (>4 cm) or those causing functional changes may lead to symptoms like neck swelling, difficulty swallowing or breathing, hoarseness, or pain radiating to the jaw or ear. In rare cases, "hot" nodules that overproduce hormone can trigger , manifesting as unintended , rapid heartbeat, tremors, or anxiety, while "cold" nodules may be associated with symptoms like and cold intolerance if they impair gland function. Complications from untreated nodules include compression of nearby structures leading to airway obstruction, persistent risking heart issues or bone loss, or, if cancerous, potential requiring more aggressive intervention. Diagnosis typically begins with a (TSH) blood test to assess function, followed by to evaluate size, composition, and vascularity, which guides the need for (FNA) biopsy—the gold standard for determining malignancy, classifying results via (e.g., 80% benign, 5% malignant, 15-20% indeterminate). For indeterminate cases, molecular testing may be used to refine . Treatment varies by nature: benign nodules are often monitored with serial ultrasounds every 6-24 months and TSH checks, while suspicious or cancerous ones require surgical removal (), sometimes followed by radioactive iodine therapy or lifelong hormone replacement. Prognosis is excellent for benign nodules, with most causing no issues, and even for (the most common malignancy), long-term survival exceeds 95% with appropriate management.

Overview

Definition and Classification

A thyroid nodule is defined as a discrete within the gland that is radiologically or ultrasonographically distinguishable from the surrounding parenchyma. These lesions are typically greater than 1 cm in diameter to be considered clinically significant, although smaller nodules may warrant evaluation if suspicious features are present. They can manifest as solitary or multiple growths and may be composed of various cell types derived from the follicular epithelium or other structures like C cells. Thyroid nodules are classified according to several schemes to guide clinical management. By composition, they are categorized as solid, cystic (purely fluid-filled), or complex (mixed solid and cystic components). By function, scintigraphy distinguishes hyperfunctioning "hot" or autonomous nodules that avidly uptake radioiodine, euthyroid "warm" nodules with uptake similar to surrounding , and hypofunctioning "cold" nodules with reduced or absent uptake. By , nodules are broadly divided into neoplastic (arising from clonal ) and non-neoplastic (such as hyperplastic or inflammatory); neoplastic types are further subclassified as benign or malignant. Histologically, benign nodules commonly include follicular adenomas, which are encapsulated tumors of follicular cells, and colloid nodules, which represent dilated follicles filled with colloid material often seen in multinodular goiters. Malignant nodules encompass various carcinomas, such as papillary, follicular, medullary, and anaplastic types, each with distinct cellular origins and behaviors. The classification of thyroid nodules has evolved historically from reliance on palpation for detection in the early 20th century to incorporation of imaging modalities following the introduction of techniques in the 1950s, which enabled functional assessment via . This shift, alongside advancements in and other imaging, has refined categorization from primarily structural to multifaceted evaluations of composition, function, and etiology.

Epidemiology and Risk Factors

Thyroid nodules are common in the adult population, with a of 4% to 7% detected by physical and up to 20% to 76% identified by examination. The is notably higher in women than in men, with a female-to-male ratio of approximately 2:1 to 4:1. The occurrence of nodules increases with advancing age, peaking in individuals over 60 years, as the mean number of nodules rises progressively across age cohorts. In children, the is lower at less than 5%, though the malignancy rate among detected nodules is elevated at 20% to 26%. During , hormonal changes contribute to an increased incidence and size of nodules, with rates rising from about 15% in the first to 24% postpartum. Geographic variations in thyroid nodule prevalence are influenced by environmental factors, particularly iodine status. In iodine-deficient regions with endemic goiter, the prevalence can reach 20% to 30%, compared to lower rates in iodine-sufficient areas. For instance, post-Chernobyl radiation exposure in affected populations demonstrated a 5- to 10-fold increase in thyroid nodule incidence, especially among those exposed in childhood. Key risk factors for developing thyroid nodules include to the head and neck during childhood, which carries an of 2 to 8. A family history of elevates the relative risk by 2 to 3 times, particularly among first-degree relatives. Autoimmune conditions such as are associated with a 20% to 30% incidence of thyroid nodules. remains a modifiable risk factor leading to higher nodule formation in endemic areas, while excess iodine may also contribute in certain regions. Recent studies link and to a 1.5- to 2-fold increased risk, independent of other factors.

Pathophysiology and Causes

Benign Causes

The majority of thyroid nodules are benign, accounting for approximately 90-95% of cases discovered through imaging or clinical evaluation. These non-cancerous growths arise from various non-neoplastic and benign neoplastic processes within the gland, often influenced by environmental, hormonal, or autoimmune factors. Common etiologies include multinodular goiter, characterized by multiple colloid nodules resulting from chronic thyroid stimulation, frequently linked to or other compensatory mechanisms. Follicular adenomas represent another prevalent benign neoplasm, forming as encapsulated overgrowths of follicular cells typically driven by (TSH) overstimulation. Thyroiditis-related nodules, such as those in , develop from lymphocytic infiltration and , creating pseudonodules amid autoimmune of the gland. Pathogenic processes underlying these benign nodules often involve of thyroid follicular cells, triggered by , elevated TSH levels, or chronic exposure, leading to nodular enlargement over time. In longstanding nodules, cystic degeneration can occur, where fluid-filled cysts form from the breakdown of adenomatous tissue or hemorrhage within the nodule. Inflammatory responses, as seen in , contribute to nodule formation through transient gland swelling and focal lymphocytic aggregates. Histologically, benign thyroid nodules exhibit uniform follicular architecture with abundant material, lacking capsular or vascular and showing low mitotic activity, distinguishing them from malignant counterparts. These features are evident in adenomatous/ nodules, which display macrofollicular patterns, and in thyroiditis-associated lesions, which include dense lymphocytic infiltrates without atypical cellular changes. Rarer benign types include hemorrhagic nodules arising from trauma-induced bleeding within the parenchyma, and calcified nodules that develop dystrophic calcifications in response to prior inflammation or degeneration. In regions with , such as certain endemic areas outside the , the prevalence of benign nodular goiter can exceed 20-30% in affected populations.

Malignant Causes

Malignant thyroid nodules arise primarily from neoplastic transformations within the , with an overall malignancy rate of 5-15% among detected nodules. This rate increases to 10-20% in males and up to 25% in children, reflecting demographic variations in tumor aggressiveness and detection. The predominant primary malignancies include papillary thyroid carcinoma (PTC), which accounts for 80-85% of cases and is frequently associated with the BRAF V600E mutation in 40-60% of instances; follicular thyroid carcinoma (FTC), comprising 10-15% and often driven by mutations; medullary thyroid carcinoma (MTC), representing 3-5% and linked to mutations in the RET proto-oncogene; and anaplastic thyroid carcinoma, a rare form affecting less than 2% and characterized by from more differentiated precursors. As of the 2024 (WHO) classification, follicular cell-derived neoplasms are categorized into benign, low-risk (e.g., noninvasive follicular thyroid neoplasm with papillary-like nuclear features, or NIFTP), and malignant, refining the distinction from prior systems. Neoplastic pathways leading to these malignancies involve dysregulated genetic and environmental factors. Genetically, alterations in the PTEN/PI3K/AKT pathway are implicated in follicular lesions, promoting cell survival and proliferation in FTC development. Environmentally, exposure to induces RET/PTC gene rearrangements, particularly in PTC, activating the MAPK signaling cascade and contributing to oncogenesis. These pathways highlight the interplay between somatic mutations and external triggers in initiating within thyroid follicular or parafollicular cells. Certain premalignant states can precede overt , including follicular of undetermined significance (with variants) and atypical cells indicative of , which carry intermediate risks of progression.

Clinical Presentation

Signs and Symptoms

Most nodules are asymptomatic and do not cause noticeable effects unless they are large enough to exert compressive pressure on surrounding structures. Approximately 50-70% of nodules are detected incidentally through performed for unrelated reasons, with symptoms arising primarily from mechanical in compressive cases. Local symptoms typically stem from the physical presence of the nodule in the . A palpable mass is the most common manifestation, generally noticeable when the nodule exceeds 1-2 in diameter, though smaller anteriorly located nodules may also be felt. due to esophageal compression can occur in patients with large nodules (>4 ), with prevalence reported around 20-40% in studies of compressive . Hoarseness may result from involvement, a finding that is rare in benign nodules but raises concern for . Systemic effects are uncommon and usually related to thyroid hormone over- or underproduction by the nodule. In toxic (hyperfunctioning) nodules, which account for about 5% of cases, manifests with symptoms such as , , , and nervousness. Certain features serve as red flags suggesting possible and warrant urgent evaluation. These include rapid growth over a short period, firm or hard consistency on , fixation to adjacent tissues, and the presence of .

Incidental Detection

Thyroid nodules are frequently discovered incidentally during studies or routine evaluations performed for unrelated concerns, allowing for the identification of lesions that might otherwise remain undetected. Common scenarios include detection on neck ultrasounds conducted to assess disease, where prevalence rates range from 9% to 21% depending on the study population and protocol. Similarly, these nodules appear in approximately 16% of computed tomography () and (MRI) scans of the head and neck region obtained for other indications, such as evaluating vascular or structural abnormalities. In high-risk groups, such as individuals with prior or , routine physical examinations may also uncover palpable incidental nodules, though confirmatory is typically required. The prevalence of incidental thyroid nodules underscores their commonality in the general population. Autopsy examinations have consistently shown that up to 50% of adults harbor thyroid nodules, often multiple and previously undiagnosed. With the advent of high-resolution , detection rates on rise to 20% to 50%, reflecting the of modern techniques in revealing subclinical lesions. Management decisions hinge on nodule size and characteristics, with a general threshold for further evaluation set at greater than 1 cm unless suspicious features are present. The 2015 American Thyroid Association (ATA) management guidelines, which remain the standard as of 2025, provide a structured approach to incidental nodules, recommending thyroid ultrasound evaluation for those exceeding 1 cm in diameter or displaying high-risk sonographic patterns, such as microcalcifications or irregular margins, irrespective of the patient's symptomatic status. These recommendations aim to balance the high prevalence of benign findings with the need to identify potential malignancies efficiently. Outcomes for incidentally detected nodules are favorable in most cases, with approximately 90% proving benign upon further assessment; however, the malignancy risk remains 5% to 15%, akin to that observed in nodules presenting with symptoms.

Diagnostic Evaluation

History and Physical Examination

The evaluation of a suspected thyroid nodule begins with a detailed history to identify risk factors and associated symptoms. Key elements include inquiring about family history of thyroid cancer or related genetic syndromes such as , prior exposure to in the head or neck region (particularly during childhood), and symptoms indicative of thyroid dysfunction, such as palpitations, weight loss, heat intolerance for or fatigue, weight gain, and cold intolerance for . Additional history should cover local symptoms like rapid nodule enlargement, hoarseness, , neck pain, or compressive sensations, which may suggest malignancy or hemorrhage into the nodule. Physical examination focuses on systematic palpation of the to characterize any nodules. The anterior approach involves positioning the patient supine with the neck slightly extended, placing the examiner's fingers below the to feel the isthmus and lateral lobes while asking the patient to swallow, which elevates the for better assessment. The posterior approach, with the examiner standing behind the seated patient, uses index and middle fingers to delineate contours, particularly useful for smaller s. During palpation, nodules are evaluated for (nodules larger than 4 cm raise concern for higher risk), consistency (soft for benign, firm or hard for potential ), mobility (freely movable versus fixed to surrounding tissues), tenderness, and multiplicity; the examiner also checks for overall goiter, vascular over the , and , which if present with a hard or fixed nodule strongly suggests . Palpation detects only 4% to 7% of nodules, compared to much higher rates identified by , underscoring its limited as an initial screening tool. In special populations, pregnant individuals require careful assessment due to increased thyroid vascularity, though risk does not appear elevated; evaluation should prioritize compressive symptoms without altering standard and exam approaches. Children and adolescents warrant heightened vigilance, as up to 26% of palpable nodules may be , necessitating thorough for firmness, fixation, or associated .

Laboratory Tests

Laboratory tests play a crucial role in the initial evaluation of thyroid nodules by assessing thyroid function and screening for potential . The primary blood-based test is serum (TSH), which serves as the first-line investigation to determine if the nodule is associated with , euthyroidism, or . If TSH is abnormal, additional free thyroxine (T4) and (T3) levels are measured to characterize the dysfunction. According to the American Thyroid Association (ATA) guidelines, serum TSH should be obtained in all patients presenting with a thyroid nodule. A subnormal TSH level indicates possible hyperfunctioning (autonomous) nodules, which warrant further evaluation with a radionuclide scan to assess uptake. In contrast, normal or elevated TSH levels suggest nonfunctioning nodules, typically proceeding to ultrasound without scintigraphy. Approximately 80-90% of thyroid nodules occur in euthyroid patients with normal TSH levels. Elevated TSH may indicate hypothyroidism-related nodules, such as those associated with Hashimoto's thyroiditis, and is linked to a higher risk of malignancy. For malignancy screening, serum calcitonin is considered to detect medullary thyroid carcinoma (MTC), though routine measurement is not recommended due to insufficient evidence. The ATA suggests calcitonin testing in cases with family history of MTC or multiple endocrine neoplasia type 2 (MEN 2), or when clinical suspicion is high, such as in large nodules (>2 cm). Levels exceeding 100 pg/mL are highly suspicious for MTC and prompt further investigation. Serum thyroglobulin is not routinely used for preoperative nodule evaluation, as it lacks specificity in this context. Anti-thyroid peroxidase (anti-TPO) antibodies may be assessed if autoimmune thyroiditis is suspected based on history or elevated TSH, helping to identify etiologies like Hashimoto's, but routine screening is not indicated.

Ultrasound Imaging

Ultrasound imaging serves as the cornerstone for evaluating thyroid nodules, providing detailed visualization of their characteristics to guide clinical decision-making. Performed with a high-frequency linear operating at 7-15 MHz, this modality allows for high-resolution assessment of the gland and any nodules, typically in transverse and longitudinal planes to measure dimensions and evaluate internal architecture. Key features examined include nodule size, composition (solid, cystic, or mixed), relative to surrounding tissue, margin regularity, presence of calcifications, and via color Doppler, enabling differentiation between benign and potentially malignant lesions.30186-2/pdf) Suspicious ultrasound features that elevate malignancy risk include hypoechogenicity, irregular or spiculated margins, microcalcifications, and a taller-than-wide shape, with the presence of one or more such characteristics associated with malignancy probabilities ranging from 20% to 90%, depending on the combination. For instance, microcalcifications and irregular borders are particularly indicative of papillary thyroid carcinoma, while the taller-than-wide orientation suggests invasive growth. These findings prompt further evaluation, as they correlate with higher sonographic suspicion levels. Standardized reporting systems like the American College of Radiology Thyroid Imaging and Data System (ACR TI-RADS) and the European Thyroid Imaging and Data System (EU-TIRADS) assign points based on features to stratify risk and recommend thresholds. In ACR TI-RADS, nodules are scored from TR1 (benign, 0 points) to TR5 (highly suspicious, >=7 points), with advised for TR5 lesions measuring 1 cm or larger.30186-2/pdf) Similarly, EU-TIRADS categorizes nodules into risk levels (EU-TIRADS 1-5), recommending for high-risk EU-TIRADS 5 nodules exceeding 1 cm in size. These systems reduce unnecessary biopsies by focusing on sonographic patterns, improving diagnostic efficiency. Recent advancements in the 2020s incorporate (AI) for in images, enhancing accuracy in classifying nodules and assisting clinicians, particularly in resource-limited settings. AI models, such as convolutional neural networks, analyze features like and margins with diagnostic accuracies exceeding 90% in some studies, aiding in interpretation. For low-risk nodules confirmed benign on cytology, follow-up is typically recommended at 6-12 month intervals initially to monitor growth or changes, extending to longer periods if stable.

Fine-Needle Aspiration Biopsy

Fine-needle aspiration (FNA) biopsy is the cornerstone procedure for cytological evaluation of thyroid nodules, allowing for the extraction of cells to determine benign or malignant . Performed under (US) guidance, it involves inserting a thin needle, typically 25- to 27-gauge, into the nodule to aspirate cellular material, with 2 to 3 passes usually sufficient for adequate sampling. This guidance ensures precise targeting, particularly for nonpalpable or posteriorly located nodules, and is recommended by the American Thyroid Association () to enhance diagnostic accuracy. Indications for FNA are stratified by nodule size and sonographic features of suspicion, as outlined in the 2015 guidelines. For nodules with high-suspicion US patterns (e.g., solid hypoechoic with irregular margins or microcalcifications), FNA is recommended if the nodule is ≥1 cm, while for those <1 cm, it may be considered based on clinical risk factors. In low-suspicion patterns (e.g., isoechoic or spongiform), FNA is indicated for nodules >1 cm, whereas intermediate-suspicion nodules (e.g., hypoechoic solid) warrant at ≥1 cm. Very low-suspicion nodules, such as purely cystic ones, generally require FNA only if ≥2 cm. Complications from US-guided FNA are rare, occurring in less than 1% of cases, and primarily include minor or , with no reported procedure-related deaths in large series. Specimen adequacy rates exceed 90% when performed with US guidance by experienced operators, significantly reducing nondiagnostic results compared to palpation-guided approaches. Cytological results are standardized using for Reporting Thyroid Cytopathology, which classifies specimens into six categories with associated risks of . The system facilitates consistent and guides clinical . The following table summarizes the categories, approximate in clinical practice, and estimated malignancy risks:
CategoryDescriptionPrevalence (%)Risk of Malignancy (%)
I: NondiagnosticInadequate cellularity for evaluation5–101–4 (or up to 9–32 upon repeat)
II: BenignConsistent with benign thyroid nodule60–700–3
III: Atypia of Undetermined Significance (AUS) or Follicular Lesion of Undetermined Significance (FLUS)Architectural or nuclear insufficient for 5–155–15 (actual 6–48)
IV: Follicular or Suspicious for Follicular Suggestive of follicular or 5–1015–30 (actual 14–34)
V: Suspicious for Highly suggestive but not definitive for 3–760–75 (actual 53–97)
VI: MalignantDefinitive features of (e.g., papillary )2–597–99
These risks are derived from aggregated surgical and long-term follow-up data, with category II often confirming benignity and avoiding unnecessary surgery, while categories V and VI typically prompt operative intervention. A key limitation of FNA is the indeterminate category (III or IV), affecting 10–25% of nodules, where cytology cannot reliably distinguish benign from malignant follicular-derived lesions. In such cases, repeat FNA may be performed to improve adequacy and categorization.

Additional Imaging Modalities

When or yields inconclusive results or is required, additional modalities may be employed to assess thyroid nodule functionality, extent of disease, or . Nuclear , using radioisotopes such as (I-123) or (Tc-99m) pertechnetate, evaluates nodule function by distinguishing hyperfunctioning ("hot") from hypofunctioning ("cold") lesions. Hot nodules, which avidly uptake the tracer, are benign in approximately 95% of cases, with a typically under 5%. In contrast, cold nodules exhibit reduced uptake and carry a 5-15% of , necessitating further evaluation. According to American Thyroid Association (ATA) guidelines, is recommended for patients with low or suppressed levels or to identify autonomous nodules, but it is not routinely indicated for euthyroid patients. Computed tomography (CT) or magnetic resonance imaging (MRI) is utilized to delineate substernal extension, local , or compressive effects in large or suspicious nodules. These modalities provide detailed anatomical assessment, particularly for retrosternal goiters or extrathyroidal spread, with offering superior evaluation of calcifications and MRI excelling in soft-tissue contrast. However, iodinated contrast in can interfere with subsequent radioiodine therapy by causing iodine overload, potentially delaying treatment for 4-8 weeks; non-contrast or MRI is preferred when radioiodine ablation is anticipated. ATA guidelines advise or MRI for nodules causing compressive symptoms or suspected but discourage routine use in euthyroid patients without these indications. Positron emission tomography-computed tomography (PET-CT) with fluorodeoxyglucose (FDG) is reserved for evaluating dedifferentiated cancers, where iodine is lost but glucose is elevated. In anaplastic , FDG uptake is markedly high, with standardized uptake values () often exceeding 10, aiding in detection of aggressive, non-iodine-avid disease. Focal FDG uptake in nodules raises concern, particularly in those with indeterminate cytology, though for differentiated cancers is lower (around 50%) compared to anaplastic subtypes. ATA guidelines do not recommend routine PET-CT for initial nodule evaluation in euthyroid patients but suggest it for staging high-risk or dedifferentiated cases.

Malignancy Risk Stratification

Clinical and Sonographic Risk Factors

Clinical risk factors that elevate the suspicion of in thyroid nodules include extremes of age, specifically patients younger than years or older than 70 years, where the of cancer is notably higher compared to middle-aged individuals. Male sex is associated with approximately twice the relative to females for a given nodule size and sonographic appearance. A history of head or neck , particularly during childhood, substantially increases the likelihood of , with rates reported up to 40% in exposed individuals. Family history of or associated genetic syndromes, such as , further heightens suspicion, accounting for 5-10% of differentiated thyroid cancers. Rapid nodule growth, defined as an increase exceeding % in two dimensions with a minimum increase of 2 mm in each dimension, also serves as a concerning indicator prompting further evaluation. Nodules larger than 4 cm warrant clinical attention due to increased . Sonographic features identified on ultrasound imaging are pivotal in assessing malignancy risk, with high-suspicion patterns including solid hypoechoic composition, which appears darker than surrounding tissue. Microcalcifications, appearing as small bright echoes within the nodule, are strongly associated with papillary . Irregular margins, such as spiculated or lobulated borders, and extrathyroidal extension, where the nodule invades beyond the thyroid capsule, further indicate aggressive behavior. Chaotic intranodular vascularity on Doppler , characterized by irregular blood flow patterns within the nodule, correlates with higher malignancy potential compared to peripheral or absent vascularity. The combination of high-risk clinical factors with suspicious sonographic features elevates the overall risk to 70-90%, whereas nodules lacking these characteristics exhibit a low risk of less than 5%. For instance, a solid hypoechoic nodule with microcalcifications in a male patient under 20 years with radiation history would warrant aggressive diagnostic pursuit due to the compounded risk. Recent updates in the 2023 European Thyroid Association guidelines introduce the EU-TI-RADS system, which integrates select clinical factors—such as male , young age, and history—with sonographic features to stratify nodules into risk categories (EU-TIRADS 3-5) for optimized selection, achieving risks of 2-4% for low-risk, 6-17% for intermediate, and 26-87% for high-risk nodules.

Cytopathologic Assessment

Cytopathologic assessment of thyroid nodules is primarily performed through evaluation of (FNA) specimens using for Reporting Thyroid Cytopathology (TBSRTC), a standardized framework that categorizes results into six diagnostic groups to guide clinical management. This system emphasizes sample adequacy, defined by the presence of at least six groups of follicular cells with at least ten cells per group, and provides risk of malignancy (ROM) estimates for each category based on cytomorphologic features. The first category, nondiagnostic or unsatisfactory (Bethesda I), includes specimens with insufficient cellularity or obscured slides, such as those dominated by cystic fluid without epithelial cells; the ROM is 1-4%, and management typically involves repeating the FNA under guidance to obtain an adequate sample. Benign (Bethesda II) encompasses nodules showing features consistent with non-neoplastic conditions like nodular goiter or lymphocytic , with a low ROM of 0-3%; these are managed with clinical observation and periodic surveillance rather than intervention. Atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS, Bethesda III) applies to cases with subtle cytologic or architectural that precludes a definitive benign or malignant , carrying a ROM of 5-15%; repeat FNA or diagnostic is often recommended for these indeterminate results. Follicular neoplasm or suspicious for a follicular (Bethesda IV) is characterized by a predominantly follicular population with microfollicular architecture and minimal , suggesting a possible follicular-derived lesion; the ROM ranges from 15-30%, warranting surgical evaluation such as . Suspicious for (Bethesda V) includes aspirates with highly suggestive but not fully diagnostic features of , such as irregular membranes or psammoma short of definitive criteria, with a ROM of 60-75%; definitive is indicated. The malignant category (Bethesda VI) definitively identifies papillary thyroid or other cancers based on unequivocal cytologic hallmarks like intranuclear grooves and Orphan Annie eye nuclei, with a ROM of 97-99%, prompting total or appropriate surgical resection. The diagnostic accuracy of FNA cytopathology is high for definitive categories, with specificity approaching 95% for identifying malignant nodules and sensitivity for benign nodules ranging from 70-90%, though indeterminate categories contribute to overall variability. Interobserver variability among cytopathologists is notable, particularly for indeterminate categories like , with disagreement rates of 10-20% due to subjective interpretation of subtle atypia. Hürthle cell lesions, characterized by oncocytic cells with abundant granular cytoplasm and prominent nucleoli, frequently fall into the indeterminate Bethesda III or IV categories owing to their architectural overlap with both benign adenomas and carcinomas; the malignancy risk in these cases is 20-35%, higher than non-Hürthle indeterminate nodules, often necessitating surgical confirmation. For post-FNA management of inadequate or cystic nodules, repeat ultrasound-guided FNA is the initial approach for nondiagnostic results to improve adequacy rates, but core needle biopsy may be considered if repeated aspirations remain insufficient, particularly in predominantly cystic lesions with residual solid components to better assess architecture.

Molecular and Genetic Testing

Molecular and genetic testing plays a crucial role in refining malignancy risk assessment for thyroid nodules with indeterminate cytology, such as those classified as Bethesda III (atypia of undetermined significance or follicular lesion of undetermined significance) or IV (follicular neoplasm or suspicious for follicular neoplasm). These tests analyze genetic alterations, gene expression profiles, or microRNA patterns in fine-needle aspiration samples to help distinguish benign from malignant nodules, thereby guiding decisions on surgical intervention. When integrated with cytopathologic evaluation, molecular testing can reduce unnecessary surgeries by identifying low-risk nodules suitable for observation. Several commercially available tests are employed for this purpose. The Afirma Gene Sequencing Classifier (GSC), which succeeded the earlier Gene Expression Classifier (GEC), uses next-generation sequencing to evaluate RNA expression and genomic variants; it demonstrates a sensitivity of 91-97%, specificity of 68%, and negative predictive value (NPV) of 96-99% for ruling out cancer in indeterminate nodules. The ThyroSeq v3 Genomic Classifier employs targeted next-generation sequencing to detect DNA and RNA alterations, achieving a sensitivity of 94%, specificity of 89%, and NPV of 96%, with the capacity to prevent up to 61% of diagnostic surgeries for Bethesda III-IV nodules. RosettaGX Reveal, a microRNA-based assay, classifies indeterminate nodules as benign or suspicious with a sensitivity of 85%, specificity of 75%, and NPV of 90%, potentially avoiding over 75% of unnecessary surgeries, though its use has declined in favor of more comprehensive panels. Indications for these tests are primarily limited to Bethesda III and IV categories, where cytology alone yields inconclusive results; they are not recommended routinely for Bethesda II (benign) or VI (definitive malignancy) nodules, as they do not alter management in those cases. Cost-effectiveness analyses indicate that molecular testing can reduce surgical interventions by 30-61% in indeterminate cases, lowering overall healthcare costs when the test price remains below approximately $1,000-5,000 per sample, depending on institutional thresholds. Key genetic markers targeted by these panels include BRAF V600E mutations, present in about 45% of papillary thyroid carcinomas (PTC) and indicative of higher malignancy risk; RAS mutations (e.g., NRAS, , ), associated with follicular thyroid carcinoma (FTC) and indeterminate lesions; TERT promoter mutations, which correlate with aggressive behavior and recurrence; and RET/PTC fusion genes, linked to PTC and radiation-associated cancers. These markers provide prognostic insights, with co-occurrence of BRAF and TERT mutations signaling particularly poor outcomes. As of November 2025, recommendations for molecular testing in thyroid nodules with indeterminate cytology continue to follow the 2015 American Thyroid Association guidelines, as the 2025 guidelines address only post-diagnosis management of differentiated thyroid cancer.

Management of Benign Nodules

Active Surveillance

Active surveillance represents a conservative management approach for low-risk benign thyroid nodules, aiming to monitor for changes without immediate intervention, thereby avoiding unnecessary procedures in the majority of cases where stability is expected. This strategy is particularly suitable following confirmation of benign cytology through fine-needle aspiration (FNA) biopsy, classified as Bethesda II, for nodules measuring less than 1 cm or exhibiting low suspicion on ultrasound using systems like TI-RADS, provided they appear stable on initial imaging and align with patient preferences. The protocol typically involves serial ultrasound examinations, starting every 6 to 12 months initially to establish a , then extending to annual intervals if no concerning changes occur. is defined as a more than 20% increase in at least two nodule dimensions with a minimum 2 mm change in diameter, or a greater than 50% increase in volume, which would prompt re-evaluation, potentially including repeat FNA or further assessment. For nodules with very low suspicion sonographic patterns, follow-up may be less frequent, at 24 months or longer, while those with intermediate patterns warrant closer monitoring at 12 to 24 months. Similar to , the 2023 European Thyroid Association () guidelines recommend surveillance based on risk and size using EU-TIRADS, with intervals of 1-5 years for low-risk benign nodules. Long-term outcomes demonstrate high stability, with approximately 70% to 80% of benign nodules remaining unchanged or even decreasing in size over five years of follow-up, and fewer than 10% progressing to require surgical intervention due to significant growth or new suspicious features. The 2015 American Association (ATA) guidelines endorse active surveillance for cytologically benign nodules, emphasizing its role in elderly patients or those with significant comorbidities to minimize risks. Similarly, updated ATA recommendations in subsequent years reinforce this for low-risk scenarios. Japanese studies from institutions like Kuma Hospital have further validated the safety of active surveillance for low-risk papillary thyroid carcinomas less than 1 cm, showing minimal progression rates and supporting its extension to select benign nodules with indolent behavior.

Nonsurgical Interventions

Nonsurgical interventions for benign nodules primarily target symptomatic or enlarging lesions that fail active surveillance, offering minimally invasive alternatives to . These approaches include techniques and percutaneous chemical methods, which aim to reduce nodule volume, alleviate compressive symptoms such as or dyspnea, and improve cosmetic concerns while preserving function. The 2023 statement provides principles for the safe performance, training, and adoption of techniques for benign nodules. Radiofrequency ablation (RFA) is a US-guided thermal procedure that uses high-frequency electrical currents to generate heat, inducing and destruction of nodule . It is indicated for benign solid or predominantly solid nodules causing compressive symptoms or cosmetic issues, with typical volume reductions of 50-80% observed at 6-12 months post-treatment. RFA demonstrates high efficacy in symptom relief and is considered safe, with major complication rates below 2%, including transient voice changes or . Ethanol , a technique, involves ultrasound-guided of followed by injection of to induce endothelial damage and , particularly effective for cystic or predominantly cystic benign nodules. This method achieves 80-90% volume resolution in suitable cases, with success rates exceeding 80% for symptom improvement and low recurrence. It is well-tolerated, with minor complications like transient pain or hoarseness occurring in less than 5% of procedures. Laser ablation and microwave ablation represent emerging thermal options, delivering energy via fiber optics or antennas to achieve similar nodule destruction as RFA, with volume reductions of 48-89% at 6-12 months. These techniques show comparable efficacy to RFA for benign nodules but are recommended as second-line due to less extensive data; the 2020 European Thyroid Association guidelines endorse their use for symptomatic cases in select European settings, with ATA acknowledging them for appropriate patients in the 2020s. Safety profiles are favorable, though microwave ablation may carry slightly higher risks of thermal injury. Medical management, such as suppression therapy, aims to reduce nodule growth by lowering TSH levels but remains controversial due to limited efficacy in volume reduction and associated risks. Current guidelines do not recommend routine use owing to potential cardiac complications like arrhythmias and , particularly in older patients. Preliminary trials for benign nodules show limited data on volume reduction, with ongoing research exploring inhibition but no established clinical role yet.

Surgical Treatment

Surgical treatment is indicated for benign thyroid nodules when they cause significant compressive symptoms, such as , dyspnea, or neck discomfort, or when they lead to cosmetic concerns due to visible enlargement. Growth despite active surveillance, defined as a volume increase greater than 20% in two dimensions with a minimum increase of 2 mm, or nodules larger than 4 cm, may also warrant , particularly if confirmed benign by biopsy. Patient anxiety or preference for definitive removal can further support surgical intervention in select cases, after discussion of risks and alternatives. The primary surgical procedures for benign thyroid nodules include thyroid lobectomy, which involves removal of the affected lobe and for unilateral nodules, offering a balance of efficacy and reduced morbidity. Total thyroidectomy, entailing complete gland removal, is reserved for bilateral nodules, multinodular goiter, or cases where contralateral involvement is suspected to prevent future operations. Minimally invasive video-assisted thyroidectomy (MIVAT) is an alternative for small benign nodules (typically ≤3 cm) in non-obese patients without , utilizing a 2-2.5 cm central incision with endoscopic to minimize scarring and recovery time while maintaining oncologic safety. Common complications of thyroid surgery for benign nodules include transient , occurring in 20-30% of cases due to temporary parathyroid dysfunction, which typically resolves within weeks to months with calcium supplementation. Permanent is less frequent, affecting about 1-3% after total but rarer with . injury, leading to transient hoarseness or voice changes, happens in 1-7% of procedures, with permanent in 1-2%, often mitigated by intraoperative nerve monitoring. Postoperative , requiring urgent intervention in severe cases, occurs in approximately 1-2% of patients. Surgical outcomes for benign thyroid nodules are generally favorable, with over 90% of patients experiencing relief from compressive symptoms and improved following complete excision. Recurrence rates are low, less than 5% with total and complete removal, though higher (up to 12%) after in multinodular cases, emphasizing the importance of extent of resection. Long-term is preserved in most patients, with minimal impact on thyroid function if is performed.

Management of Suspicious or Malignant Nodules

Preoperative Preparation

Preoperative preparation for suspicious or malignant nodules involves a systematic approach to confirm the , stage the disease, optimize condition, and ensure coordinated care prior to surgical intervention. For nodules classified as Bethesda V (suspicious for malignancy) or VI (malignant) on (FNA) cytology, confirmation typically includes repeat FNA or core biopsy to verify the findings and guide management decisions. In cases of indeterminate cytology (Bethesda III or IV), molecular testing is recommended to refine risk stratification and potentially avoid unnecessary surgery by identifying low-risk lesions. Staging begins with neck ultrasound to evaluate for regional lymph node involvement and extrathyroidal extension, which is essential for all patients with suspected malignancy as it informs surgical planning. If ultrasound suggests invasion or is inconclusive, cross-sectional imaging such as computed tomography (CT) or (MRI) of the neck is indicated to assess local extent and distant metastases, particularly when findings may alter the operative approach. (TSH) levels should be optimized preoperatively to achieve a euthyroid state; if is present, normalize using antithyroid medications such as methimazole or . A multidisciplinary team, including endocrinologists, surgeons, and pathologists, is crucial for reviewing risk stratification results, discussing options, and developing a patient-centered plan, often through a thyroid conference. must address specific surgical risks, such as injury or , alongside benefits and alternatives, with documentation of these discussions. For nodules suspicious for (MTC), preoperative serum calcitonin measurement is recommended to confirm the diagnosis and assess tumor burden. is advised for patients with familial syndromes or germline variants associated with , such as RET mutations in MTC or PTEN in , to evaluate hereditary risks and guide family screening.

Surgical Approaches

Surgical approaches for thyroid nodules confirmed or highly suspicious for are guided by , tumor characteristics, and oncologic principles to balance oncologic control with preservation of thyroid function. For differentiated cancer (DTC), including papillary thyroid carcinoma (PTC), the primary procedures include thyroid lobectomy for low-risk, unifocal tumors greater than 1 cm without extrathyroidal extension or nodal involvement, and total thyroidectomy for multifocal PTC, bilateral , or higher-risk features such as gross extrathyroidal extension or clinically apparent metastases. In medullary thyroid carcinoma (MTC), total thyroidectomy is the standard procedure, particularly when regional or distant metastases are present. Therapeutic central neck dissection (levels VI/VII) is recommended if lymph nodes are clinically positive (cN1a), while prophylactic central neck dissection may be considered in clinically node-negative (cN0) cases with high-risk features like tumors larger than 4 cm or extrathyroidal extension, but it is not routine for low-risk PTC. Intraoperative techniques emphasize nerve preservation and margin assessment to minimize morbidity. Routine use of intraoperative neuromonitoring for the is strongly recommended during total or reoperative procedures to reduce the risk of injury, particularly in bilateral or cases with prior . Frozen section analysis has a limited role and is not routinely recommended due to its low sensitivity for confirming ; it may be used selectively to guide extent of if preoperative cytology is indeterminate but suspicious features are identified intraoperatively. The extent of surgery remains a topic of debate, with the 2025 American Thyroid Association (ATA) guidelines favoring lobectomy for low-risk DTC (e.g., intrathyroidal tumors 1-4 cm without adverse features) to preserve parathyroid function and avoid lifelong thyroid hormone replacement, while recommending total thyroidectomy for high-risk cases to facilitate radioactive iodine ablation and improve recurrence detection. This de-escalation approach for low-risk disease reflects evidence of comparable oncologic outcomes with reduced complications compared to more extensive surgery. Complications from these oncologic procedures are higher than those for benign nodules due to the greater extent of resection and lymph node dissection. Transient occurs in up to 30% of patients undergoing total thyroidectomy, while permanent affects approximately 4-5%; injury rates are around 5% transiently and 1-3% permanently. These risks underscore the importance of performing surgery by high-volume endocrine surgeons to optimize outcomes.

Postoperative Follow-Up

Following surgical treatment for suspicious or malignant thyroid nodules, particularly differentiated thyroid cancer (), postoperative follow-up focuses on detecting recurrence or persistent disease through a combination of biochemical markers, , and risk-stratified monitoring. The American Thyroid Association () 2025 guidelines emphasize an initial assessment 6–12 weeks after to evaluate response to , followed by tailored to minimize unnecessary testing while ensuring early detection of issues. Serum thyroglobulin (Tg) levels, measured with concurrent Tg antibodies (TgAb), serve as the primary biochemical marker for DTC surveillance. Post-total thyroidectomy, Tg is assessed 6–12 weeks after surgery on thyroid hormone therapy or after TSH stimulation; undetectable Tg (<0.2 ng/mL with RAI ablation or <2.5 ng/mL without) indicates a favorable initial response. Neck ultrasound is recommended at 6–12 months postoperatively to evaluate the thyroid bed and cervical lymph nodes, with fine-needle aspiration (FNA) guided by Tg washout for suspicious nodes ≥8–10 mm. For high-risk patients, a radioactive iodine (RAI) whole-body scan may be performed if clinical suspicion arises, such as rising Tg levels, though it is not routine for low-risk cases. Surveillance is risk-adapted based on the 2025 ATA four-tier risk of recurrence (ROR) system (low, low-intermediate, intermediate-high, high). Low-risk patients typically undergo annual neck and Tg monitoring for the first 5 years, transitioning to every 1–3 years thereafter if no evidence of disease. High-risk patients require more intensive initial follow-up, including Tg and every 6 months for 1–2 years, with consideration of additional imaging like 18F-FDG-PET/ if Tg exceeds 10 ng/mL or disease is RAI-refractory. Response to therapy is dynamically assessed using criteria within 3–12 months post-treatment to refine ongoing . An excellent response is defined by undetectable , negative (including no uptake on scan), and no structural evidence of , correlating with recurrence rates of 1–4%. Indeterminate, biochemically incomplete (elevated without structural ), or structurally incomplete responses (e.g., persistent nodes) prompt intensified monitoring, with recurrence risks ranging from 5–85% depending on category. Long-term surveillance for may be de-escalated per 2025 ATA updates, particularly for low-risk patients achieving excellent response: routine can be discontinued after 5–8 years, and Tg monitoring after 10–15 years, with potential transition to complete remission status. For (MTC), follow-up is lifelong, involving serial measurement of basal and stimulated calcitonin and (CEA) starting 3 months postoperatively, then every 6 months for the first year and annually if normalized, alongside neck to detect recurrence.

Special Considerations

Autonomous Nodules

Autonomous thyroid nodules, also known as hot or hyperfunctioning nodules, are thyroid lesions that produce independently of (TSH) regulation, appearing as areas of increased uptake on thyroid . These nodules account for approximately 5-10% of palpable thyroid nodules and are most commonly benign toxic adenomas, with low rates (approximately 3-5%). Patients with autonomous nodules may present with subclinical (suppressed TSH with normal free thyroxine levels) or overt clinical , manifesting as symptoms such as , , , and . In elderly individuals over 60-65 years, subclinical increases the risk of , while postmenopausal women face heightened risk. Diagnosis begins with serum TSH measurement; subnormal levels prompt thyroid scintigraphy using or pertechnetate, confirming autonomy through focal "hot" uptake suppressing the surrounding gland. (FNA) is typically unnecessary for confirmed hyperfunctioning nodules due to their low risk, but it is recommended for nodules larger than 4 cm or those with non-functioning () areas on scintigraphy, where risk may approach 5%. Management of autonomous nodules focuses on addressing and nodule size. Antithyroid drugs, such as methimazole, provide short-term symptom control but are not curative. Definitive treatment options include radioactive iodine (RAI) therapy, which achieves resolution in about 80-90% of cases after one dose, often reducing nodule volume by 40-50%; or surgical resection via for symptomatic, large, or cosmetically concerning nodules. Minimally invasive alternatives, such as radiofrequency or , offer resolution rates of 70-90% for hyperfunctioning nodules in select patients, preserving . For subclinical cases without cardiovascular risk, active with periodic TSH may suffice.

Nodules in Multinodular Goiter

Multinodular goiter (MNG) represents a common disorder characterized by diffuse enlargement with multiple nodules, occurring either in endemic forms associated with or sporadic forms in iodine-sufficient regions. Endemic MNG is prevalent in areas with chronic , leading to compensatory hyperplasia and nodularity, while sporadic MNG arises from and other non-iodine-related factors without regional dietary limitations. By definition, MNG involves multiple nodules. Evaluating nodules within MNG poses unique challenges compared to solitary nodules, primarily due to the multiplicity requiring targeted assessment of dominant or suspicious lesions. (FNA) is recommended for the largest nodule or those with ultrasonographic features suggestive of , such as microcalcifications or irregular margins, to guide further . The risk of in MNG is estimated at 3-5%, comparable to that in solitary nodules, though the overall cancer detection rate may be higher when accounting for multiple sites, emphasizing the need for comprehensive imaging. Management of nodules in MNG focuses on selective based on symptoms, growth, and cytology results, often prioritizing conservative approaches for euthyroid patients. Active with serial is appropriate for stable, asymptomatic MNG, monitoring for interval changes in nodule size or characteristics. Surgical options include or nodular resection for dominant suspicious nodules, while total is preferred for compressive symptoms, bilateral involvement, or confirmed malignancy to prevent recurrence and facilitate lifelong therapy. Complications in MNG management are heightened in cases with retrosternal extension, where up to 20% of large goiters may extend into the , increasing risks of tracheal compression, injury, and postoperative during resection. In the , emphasis has shifted toward minimally invasive techniques, such as endoscopic or robotic-assisted trans-cervical approaches, to improve , reduce incision length, and lower morbidity in retrosternal MNG without compromising oncologic outcomes.