Merkel cell polyomavirus (MCPyV or MCV) is a small, non-enveloped, double-stranded DNA virus belonging to the family Polyomaviridae with a circular genome of approximately 5.4 kilobases.[1] Discovered in 2008 through digital transcriptome subtraction in Merkel cell carcinoma (MCC) tumor samples, it encodes early genes for large T antigen (LT), small T antigen (sT), and other regulatory proteins, as well as late genes for capsid proteins VP1, VP2, and VP3.[2] MCPyV is strongly associated with MCC, a rare but highly aggressive skin cancer with a 5-year relative survival rate of approximately 70% (as of 2021 data), as the virus is clonally integrated and expresses truncated, oncogenic forms of LT and sT in approximately 80% of cases.[3][4]MCPyV is a ubiquitous human pathogen, with primary infection typically occurring asymptomatically in early childhood and seroprevalence rising from about 50% in individuals under 15 years to over 80% in adults older than 50.[3] The virus persists chronically in the skin, respiratory tract, and other tissues, shedding virions primarily through cutaneous routes, though exact transmission mechanisms—potentially involving skin-to-skin contact, fomites, or respiratory droplets—remain incompletely defined.[1] While most infections are benign, factors such as immunosuppression, advanced age, and ultraviolet light exposure increase the risk of viral integration and subsequent MCC development, particularly in fair-skinned populations. Advances in immunotherapy have improved survival rates in recent years.[2][5] As one of only seven known human oncoviruses, MCPyV's study has advanced understanding of polyomavirus biology and tumor virology, highlighting the role of viral oncoproteins in cell cycle deregulation and immune evasion.[3]
Virology
Taxonomy
Merkel cell polyomavirus (MCPyV), also known as human polyomavirus 5, belongs to the family Polyomaviridae within the genus Alphapolyomavirus. This classification places it among double-stranded DNA viruses that primarily infect mammals, with MCPyV being one of the 13 recognized human polyomaviruses. The family Polyomaviridae encompasses viruses characterized by their small, circular genomes and ability to establish persistent infections, often remaining asymptomatic in healthy hosts.[6][7]Following its discovery in 2008, MCPyV's taxonomic placement underwent refinements by the International Committee on Taxonomy of Viruses (ICTV). Initially integrated into the single-genus structure of Polyomaviridae, the taxonomy was restructured in 2011 to create distinct genera based on phylogenetic relationships and host specificity, elevating Alphapolyomavirus to include MCPyV alongside other mammalian-infecting species like simian virus 40. Further updates in 2016 and subsequent ICTV reports expanded the family to six genera and 117 species, solidifying MCPyV's species designation as Human polyomavirus 5 based on large T antigen and VP1 protein sequences. These changes reflected the rapid identification of new polyomaviruses and emphasized genetic divergence exceeding 15% for species demarcation.[8][9]Morphologically, MCPyV exhibits typical polyomavirus features: a non-enveloped virion with an icosahedral capsid composed of 72 pentameric capsomers, measuring approximately 40–50 nm in diameter. The capsid is formed primarily by the major capsid protein VP1, with minor contributions from VP2 and VP3, enabling stability and host cell entry.[10][6]Compared to other human polyomaviruses, MCPyV in Alphapolyomavirus differs phylogenetically from those in Betapolyomavirus, such as BK polyomavirus (Human polyomavirus 1), JC polyomavirus (Human polyomavirus 2), KI polyomavirus (Human polyomavirus 3), and WU polyomavirus (Human polyomavirus 4). While BK and JC viruses are associated with nephropathy and progressive multifocal leukoencephalopathy in immunocompromised individuals, respectively, and KI and WU with potential respiratory involvement, MCPyV is uniquely linked to oncogenesis in its natural host, highlighting genus-specific pathogenic potentials.[6][7]
Genome and structure
The Merkel cell polyomavirus (MCPyV) has a circular, double-stranded DNA genome of approximately 5,387 base pairs, a size typical of polyomaviruses. This compact genome is organized into bidirectional transcriptional units separated by a non-coding control region (NCCR). The NCCR, spanning about 500 base pairs, serves as the origin of replication and contains promoter elements, including an AT-rich tract and binding sites for the large T antigen (LT), which regulate viral gene expression and replication initiation.[11][12]The early region, transcribed during the initial phase of infection, encodes multifunctional regulatory proteins primarily through alternative splicing of a common pre-mRNA. Key products include the large T antigen (LT, approximately 816 amino acids), which is essential for viral DNA replication, and the small t antigen (ST, 186 amino acids), which modulates hostcell pathways. Additional splice variants arise from this region, such as the 17kT protein—a truncated LT-like product lacking the helicase domain—and the alternative large T open reading frame protein (ALTO), derived from an out-of-frame sequence in the LT exon, potentially influencing viral persistence. The late region, expressed later in the replication cycle, encodes the structural capsid proteins: VP1 as the major component (about 70% of the virion mass), and the minor proteins VP2 and VP3, which share an amino-terminal domain but differ in length due to alternative start sites. Notably, VP3 appears non-functional or minimally expressed in MCPyV, unlike in some related polyomaviruses.[11][13]Strains of MCPyV integrated into Merkel cell carcinoma (MCC) genomes exhibit characteristic mutations, particularly truncating alterations in the LT gene that disrupt the C-terminal helicase and Rb-binding domains while preserving the N-terminal oncogenic motifs. These mutations, often occurring at splice sites or through tandem repeats in the NCCR, render the virus replication-defective in tumors but maintain expression of truncated LT and ST. Such changes are absent in non-tumorigenic MCPyV isolates, highlighting their role in viral adaptation to the tumor microenvironment.[11][12]The MCPyV virion is a non-enveloped, icosahedral particle approximately 45–50 nm in diameter, exhibiting T=7 symmetry. It assembles from 72 pentamers of the VP1 protein, which form the outer capsid shell and mediate receptor binding via sialylated glycans. Inter-pentamer contacts are stabilized by calcium ions coordinated within hydrophobic pockets, contributing to the capsid's stability. VP2 and VP3 incorporate internally at a ratio of up to one copy per pentamer, with their basic N-termini facilitating nuclear import of the incoming virion through interactions with nuclear pore components. Cryo-electron microscopy studies confirm this architecture, revealing minor conformational differences from other polyomaviruses, such as in VP1's receptor-binding loops.[14]
Replication cycle
Merkel cell polyomavirus (MCPyV) initiates its replication cycle through receptor-mediated endocytosis, primarily utilizing gangliosides such as GT1b containing the Neu5Ac-α2,3-Gal motif on the surface of host cells, with attachment facilitated by glycosaminoglycans like heparan sulfate.[15] Entry is enhanced by growth factors such as epidermal growth factor (EGF) and fibroblast growth factor (FGF), as well as activation of WNT/β-catenin signaling, which induces matrix metalloproteinases to degrade the extracellular matrix and promote viral access.[16] Productive infection occurs in permissive cells, notably human dermal fibroblasts located at the dermal-epidermal junction, while keratinocytes and Merkel cells show limited or no replication support.[16]Following endocytosis, the virus traffics to the endoplasmic reticulum and exploits mitotic nuclear envelope breakdown for nuclear entry, bypassing the nuclear pore complex in a cell cycle-dependent manner.[17]VP1 directs this nuclear import independently of VP2, which lacks a nuclear localization signal, with uncoating occurring during mitosis when endoplasmic reticulum and nuclear envelope identities are disrupted, releasing the viral genome.[17] The minor capsid proteins VP2 and VP3, featuring basic motifs, assist in genome uncoating and nuclear targeting, though VP1 is sufficient for the process.[15]Upon nuclear delivery, large T antigen (LT) initiates viral DNA replication by binding the non-coding control region (NCCR) origin, which contains GAGGC-like motifs, acting as an ATP-dependent helicase in conjunction with small T antigen (ST) for efficient initiation.[15] Replication proceeds in a bidirectional theta mode within S-phase-arrested host cells, recruiting cellular histones to form minichromosomes that support viral genome amplification, yielding high copy numbers per infected dermal fibroblast.[18] In permissive cells like dermal fibroblasts, this leads to lytic replication culminating in cell lysis and progeny release, whereas non-permissive cells exhibit abortive replication without virion production.[19]Late in the cycle, capsid proteins VP1 and VP2 assemble new virions in the nucleus, forming non-enveloped icosahedral particles.[19] Egress occurs via non-lytic mechanisms in skin cells, potentially involving lysosomal processing or desquamation of keratinocytes to release virions without overt cell destruction, facilitating persistent infection.[15]
History
Discovery
The Merkel cell polyomavirus (MCPyV) was first identified in 2008 by researchers at the University of Pittsburgh School of Medicine, led by Huichen Feng, Masahiro Shuda, Yuan Chang, and Patrick S. Moore. Using a computational method known as digital transcriptome subtraction (DTS), the team analyzed messenger RNA sequences from four Merkel cell carcinoma (MCC) tumor samples to detect novel viral transcripts not matching known human genes. This approach revealed a fusion transcript between a previously unknown viral large T antigen and a human gene, indicating active viral gene expression in the tumors.Further investigation confirmed the presence of MCPyV DNA in 8 out of 10 MCC tumors examined, with the viral genome clonally integrated into the host DNA in 6 out of the 8 positive cases. This clonal integration pattern, where the virus is present in every tumor cell from a single integration event early in tumorigenesis, provided strong evidence for a causal role in MCC development, as it aligned with the monoclonal origin of the tumors. Sequencing of the full viral genome showed MCPyV to be a novel polyomavirus, distinct from the four previously known human polyomaviruses (BK, JC, KI, and WU), with closest homology to lymphotropic polyomavirus in its nonhuman primate host.The discovery was rapidly published online in Science on January 17, 2008, and in print on February 22, 2008, marking the first identification of a human polyomavirus associated with cancer. Subsequent studies by independent laboratories quickly verified these findings, detecting MCPyV DNA in approximately 80% of MCC cases across diverse patient populations, including reports from Kassem et al. in July 2008 and Becker et al. in early 2009.[20]
Characterization
Following its discovery, the full genome of Merkel cell polyomavirus (MCPyV) was sequenced and annotated by 2009, revealing a circular double-stranded DNA genome of approximately 5.4 kilobases organized into early and late regions separated by a non-coding control region (NCCR). The early region encodes the large tumor antigen (LT) and small tumor antigen (sT) from overlapping open reading frames, while the late region includes open reading frames for the major capsid protein VP1 and minor capsid protein VP2; an alternative frame in the LT region (ALTO) was later annotated in subsequent analyses.[21]Serological assays were developed shortly thereafter to assess MCPyV exposure in populations, with virus-like particle (VLP)-based enzyme-linked immunosorbent assays (ELISAs) targeting the VP1capsid protein confirming high seroprevalence. These assays demonstrated seropositivity rates of around 40-50% in children, rising to over 80% in adults, indicating widespread asymptomaticinfection typically acquired early in life.[22]Efforts to cultivate MCPyV in vitro revealed significant challenges, as the virus exhibits restricted replication in standard cell lines and requires specific host factors like dermal fibroblasts for efficient early gene expression, with full lytic replication remaining elusive until optimized 3D organoid models in the mid-2010s. Animal models, including transgenic mice expressing MCPyV T antigens under skin-specific promoters and subcutaneous xenografts of MCPyV-positive Merkel cell carcinoma (MCC) cell lines, were established between 2010 and 2015 to study viral oncogenesis and tumor progression in vivo.[23][24]Studies in the 2010s identified limited strain variations among MCPyV isolates, with nucleotide identity exceeding 98% across the genome and classification into four major clades (A-D) based on VP1 and LT sequences from diverse geographic sources. Tumor-derived isolates often showed truncating mutations in the LT open reading frame, alongside evidence that ultraviolet (UV) radiation can upregulate viral gene expression, such as increased sT mRNA levels in UV-exposed skin, potentially influencing viral persistence in sun-damaged tissues.[25][26]In the 2020s, structural biology advances included cryo-electron microscopy (cryo-EM) determination of the MCPyV virion at near-atomic resolution, elucidating the icosahedral capsid architecture and glycan receptor interactions critical for cell attachment. Concurrently, analyses of NCCR rearrangements in both non-tumor and tumor contexts revealed archetype sequences in healthy skin contrasting with rearranged variants in MCC, where deletions and duplications alter promoter activity and viral replication control. In 2025, studies using skin organoid models further elucidated MCPyV infection and persistence mechanisms in human skin tissues.[27][28][29]
Epidemiology
Prevalence
Merkel cell polyomavirus (MCPyV) infection is highly prevalent in human populations, with seroprevalence rates ranging from 25% to 96% among adults worldwide, varying by region, age, and assay used.[30] Seropositivity increases progressively with age, reflecting early-life acquisition; for instance, rates are approximately 45% in children under 10 years old, rising to 60% in the 10-19 age group and peaking at around 81% in individuals aged 60-69 years.[31] This pattern indicates that primary infection often occurs in childhood, with approximately 58% of children showing evidence of exposure by age 10 in some cohorts.[32]MCPyV DNA is frequently detectable on healthy skin, with prevalence rates of 67-90% in cutaneous swabs from dermal sites, underscoring its ubiquity as a commensal skin virus.[33] In contrast, viral DNA is rare in non-dermal sites such as blood or urine, where detection is infrequent and typically limited to low viral loads in healthy individuals.[34][35]Geographic distribution of MCPyV infection shows variations in seroprevalence across regions; for example, rates of 25–42% have been reported in the United States, 82% in the Netherlands, 69% in Hungary, and up to 96% in older adults (70–79 years) in Italy, while DNA detection rates on skin appear more consistent globally.[30] However, detection rates may be elevated in immunocompromised groups; for example, MCPyV DNA prevalence in sera reaches 39% among HIV-1-positive individuals, compared to lower rates in immunocompetent controls.[30]Persistent MCPyV infection is associated with risk factors including immunosuppression, advanced age, and fair skin, which correlate with higher incidence of Merkel cell carcinoma (0.2-0.6 cases per 100,000 annually).[36][37] As of 2025, overall prevalence remains stable without evidence of major outbreaks, though recent studies note increased MCPyV detection in non-Merkel cell carcinoma tumors, such as non-melanoma skin cancers.[38][39]
Transmission
The primary mode of Merkel cell polyomavirus (MCPyV) transmission is through direct skin-to-skin contact, as the virus persistently resides and sheds from the epidermal layers of healthy skin in a high proportion of individuals.[30] Intact virions are regularly detected on the skin surface, facilitating spread during close physical interactions such as childhood play, sibling contact, or from mother to child. MCPyV infection typically occurs early in life, with seroprevalence rising rapidly in children, supporting horizontal transmission via these routes.[15]Minor routes may include respiratory droplets or fomites, inferred from the detection of MCPyV DNA in nasopharyngeal aspirates and upper respiratory tract samples from both healthy and symptomatic individuals.[40] However, these findings suggest transient presence rather than a primary reservoir, with viral loads generally low.[41]Vertical transmission is unlikely, as serological and DNA detection studies in mother-infant pairs show no evidence of perinatal passage.[42] Similarly, there is no substantiated evidence for sexual or bloodborne spread, despite occasional MCPyV detection in anal samples or serum; such occurrences appear incidental rather than indicative of efficient transmission.[34]MCPyV establishes latency through persistent cutaneous infection without systemic viremia, allowing long-term skin residency for years or decades in most infected individuals.[43] Reactivation, potentially leading to increased shedding, can occur under conditions of immunosuppression or ultraviolet exposure, which compromise local immune surveillance in the skin.[44][45]Experimental studies in animal models, including dermal fibroblast infections and transgenic mouse systems, demonstrate that MCPyV can be inoculated via skin routes to establish infection, supporting horizontal transmission mechanisms observed in humans, though full cross-species models remain limited.[46]
Merkel cell polyomavirus (MCPyV) is causally associated with the majority of Merkel cell carcinoma (MCC) cases, a rare but aggressive neuroendocrine skin cancer. Approximately 70-90% of MCC tumors worldwide are virus-positive, meaning they harbor integrated MCPyV DNA sequences.[47] In these cases, the viral genome is clonally integrated into the host cell DNA, indicating that infection and integration occurred in a single progenitor cell that gave rise to the monoclonal tumor population. This clonal pattern supports the virus's role as an initiating oncogenic event in virus-positive MCC.[48]The remaining 10-30% of MCC cases are virus-negative, lacking detectable MCPyV sequences and instead characterized by a high tumor mutation burden driven primarily by ultraviolet (UV) radiation-induced DNA damage.[49] These tumors exhibit mutational signatures consistent with chronic UV exposure, such as C>T transitions at dipyrimidine sites, distinguishing them from the lower mutation rates observed in virus-positive MCC.[50]MCC risk is synergistically elevated by the combination of MCPyV infection, UV exposure, and immunosuppression. Individuals with immunosuppression, such as solid organ transplant recipients or those with HIV, face a 10- to 100-fold increased incidence of MCC compared to the general population, likely due to impaired immune surveillance allowing persistent viral infection and tumor progression.[51] UV exposure further amplifies this risk by promoting viral integration or directly contributing to mutagenesis in virus-negative cases.[3]Demographically, MCC predominantly affects older adults, with a median age at diagnosis of 75 years, and is far more common in white individuals than other racial groups.[47] Immunocompromised patients represent a high-risk subgroup, accounting for a disproportionate share of cases despite comprising a small fraction of the population. Virus-positive tumors are more frequently identified in less UV-exposed sites, such as the limbs or trunk, whereas virus-negative tumors often arise on sun-damaged areas like the head and neck.[52]As of 2025, adaptations of Koch's postulates—incorporating molecular evidence of clonal integration, viral oncoprotein expression, and epidemiological consistency—continue to affirm MCPyV's causality in virus-positive MCC, with no significant changes reported in global association rates.[53] Recent analyses attribute roughly 64% of U.S. MCC cases to MCPyV and 65% to ambient UV radiation, underscoring their overlapping yet distinct contributions without altering the established 70-90% virus-positivity prevalence.[54]
Mechanisms in Merkel cell carcinoma
In Merkel cell polyomavirus (MCPyV)-associated Merkel cell carcinoma (MCC), the viral genome undergoes clonal integration into the host cell genome during an abortive infection, where the virus fails to complete its replication cycle but persists as a stable episome or integrated element. This integration occurs randomly across the tumor genome and is detected in a clonal pattern in the majority of virus-positive MCC cases, indicating that it precedes the clonal expansion of tumor cells.[48] Accompanying this integration are truncating mutations in the large T antigen (LT) gene, which disrupt the viral helicase domain essential for DNA replication, thereby preventing productive viral replication while preserving oncogenic functions.[55]The truncated LT antigen retains its LXCXE motif, enabling binding to the retinoblastoma protein (Rb), which sequesters E2F transcription factors and promotes cell cycle progression by disrupting Rb-mediated repression.[56] This interaction leads to indirect activation of p53 via increased expression of ARF, which inhibits MDM2, though p53 transcriptional activity remains limited in MCC cells due to other mechanisms.[57] Concurrently, the small T antigen (ST) drives oncogenesis by binding and displacing protein phosphatase 2A (PP2A) from regulatory complexes, leading to hyperactivation of the PI3K/Akt signaling pathway and downstream mTOR-mediated promotion of cell survival and growth.[58]Rearrangements in the noncoding control region (NCCR) of the MCPyV genome, which contains the viral promoter and enhancer elements, are frequently observed in MCC tumors and result in increased transcriptional activity of the early region genes encoding LT and ST.[28] These NCCR alterations, often involving duplications or deletions of binding sites for cellular transcription factors, elevate LT and ST expression levels by up to 2.5-fold compared to wild-type sequences, thereby amplifying oncogenic signaling in tumor cells.[59]The "hit-and-run" hypothesis, positing that MCPyV initiates tumorigenesis but becomes dispensable thereafter, has been debated but largely disproven by evidence demonstrating that sustained expression of truncated LT and ST is essential for tumor maintenance.[60] Knockdown of these antigens in virus-positive MCC cell lines induces tumor regression, confirming their ongoing requirement for cell viability and growth.[61]In virus-positive MCC, ultraviolet (UV) radiation synergizes with MCPyV by inducing additional somatic mutations, though at a lower tumor mutational burden than in virus-negative cases, contributing to genomic instability and tumor progression.[50] MCPyV further facilitates immune evasion through downregulation of major histocompatibility complex class I (MHC-I) expression on tumor cells, reducing antigen presentation to cytotoxic T cells and impairing immune surveillance.[62]Recent studies have elucidated the role of the ALTO protein, encoded by an alternative open reading frame in the MCPyV early region, which acts as a tumor suppressor by activating NF-κB signaling to downregulate LT and ST expression, thereby limiting viral persistence and oncogenesis; ALTO is often silenced in MCC tumors.[63]
Other associations
Merkel cell polyomavirus (MCPyV) DNA has been detected in various non-Merkel cell carcinoma (MCC) tumors, though typically at low viral loads and without evidence of clonal integration into the host genome, suggesting a non-causal role. In lung cancer, particularly small cell lung cancer, MCPyV prevalence ranges from 10-20% in some cohorts, with a 2025 review proposing it as a possible co-factor in carcinogenesis rather than a primary driver. Similarly, in head and neck cancers, MCPyV detection rates vary across studies and subtypes, ranging from 0% to approximately 35%, but without demonstration of oncogenic transformation, as reported in a 2025 comprehensive review. Detection has also been noted in prostate cancer tissues at low frequencies (under 5%) and in chronic lymphocytic leukemia (CLL) samples, where MCPyV DNA is present in up to 20% of cases, but lacks integration or expression of viral oncoproteins, indicating incidental presence rather than etiological involvement.[64][65][66][67]In healthy individuals, MCPyV is ubiquitous, with DNA detectable in 67-90% of skin samples across various body sites and in salivary glands, where it is shed asymptomatically via saliva without any associated diseasepathology. This widespread presence underscores MCPyV as a common commensal rather than a pathogen in immunocompetent hosts.[30][15]Among immunocompromised populations, such as those with HIV/AIDS, MCPyV shedding from the skin increases significantly, with viral DNA loads in sera up to 10-fold higher than in healthy controls, reflecting enhanced replication due to impaired immunity. However, this heightened shedding does not directly cause other malignancies beyond MCC, as no causal links to additional cancers have been established in these groups.[68][69]Links to common skin cancers, such as basal cell carcinoma and squamous cell carcinoma, have been firmly rejected, with MCPyV detection rates below 5% in these lesions compared to over 80% in MCC, and no viral contribution to tumorigenesis. Unlike the JC polyomavirus, which causes progressive multifocal leukoencephalopathy, MCPyV shows no association with this demyelinating disease or any central nervous system pathology.[70][71]Recent 2025in vitro studies using skinorganoid models have demonstrated MCPyV infection and persistence in neuroendocrine-like cells, hinting at potential involvement in non-skin neuroendocrine tumors, though causality remains unproven due to the absence of tumor induction in these experimental systems.[72]
Clinical aspects
Diagnosis
Diagnosis of Merkel cell polyomavirus (MCPyV) infection primarily relies on serological and molecular methods to detect viral exposure or presence in clinical samples. Serological assays, such as enzyme-linked immunosorbent assay (ELISA) targeting antibodies against the viral capsid protein VP1 (anti-VP1 IgG), are commonly used to identify past or ongoing infection, with reported sensitivity of approximately 80% in evaluating immune responses.[73] These assays detect persistent antibodies in a significant portion of the population, reflecting the virus's widespread asymptomatic circulation.[22] For direct detection of viral DNA, quantitative real-time polymerase chain reaction (qPCR) is applied to skin swabs or tissue biopsies, enabling quantification of MCPyV genomes even at low viral loads in lesional or non-lesional skin.[33] This method has demonstrated high prevalence of MCPyV DNA in cutaneous samples from healthy individuals, underscoring its utility in confirming active infection.[74]In cases of suspected Merkel cell carcinoma (MCC), diagnosis begins with histopathological examination, which reveals small, round blue cells with neuroendocrine features, confirmed by immunohistochemical staining for markers such as cytokeratin 20 (CK20) in a characteristic perinuclear dot-like pattern and chromogranin.[75] Additional neuroendocrine markers like synaptophysin further support the diagnosis.[76] To assess MCPyV involvement, immunohistochemistry (IHC) for the viral large T (LT) antigen, using antibodies like CM2B4, is highly specific (up to 95%) for identifying virus-positive MCC tumors.[77] Complementary qPCR on tumor DNA detects integrated MCPyV sequences with sensitivity exceeding 95% in confirmed positive cases, often outperforming traditional methods in low-copy scenarios.[78]Distinguishing virus-positive from virus-negative MCC is critical, as LT IHC is typically negative in the latter, which are driven by ultraviolet (UV) radiation signatures and exhibit higher mutational burdens.[79] Virus-negative tumors lack detectable MCPyV integration, relying instead on somatic mutations for oncogenesis.[80]Challenges in MCPyV diagnosis include the absence of routine screening for asymptomatic carriers in healthy populations, given the virus's ubiquity and low disease association outside MCC.[81] Emerging approaches, such as liquid biopsy detecting circulating tumor DNA (ctDNA), offer non-invasive monitoring for MCC recurrence with high sensitivity (94-95%), potentially reducing reliance on imaging.[82] As of 2025, integration of next-generation sequencing (NGS) enables precise strain typing of MCPyV in diagnostic workflows, facilitating hybrid capture-based detection of integrated viral genomes and enhancing etiological confirmation in tumors.[79]
Prevention
As of 2025, no licensed vaccine exists for primary prevention of Merkel cell polyomavirus (MCPyV) infection or associated Merkel cell carcinoma (MCC).[83] Ongoing phase I clinical trials have evaluated VP1capsid protein-based vaccines, such as ITI-3000, demonstrating immunogenicity and safety in high-risk groups including immunosuppressed patients and those with prior MCC.[84] These trials, initiated between 2023 and 2025, target viral entry and replication to reduce oncogenic potential, though efficacy in preventing de novoinfection remains under investigation.[83]Behavioral strategies emphasize sun protection to mitigate the synergistic effects of ultraviolet (UV) radiation and MCPyV in MCC pathogenesis, as UV exposure damages DNA and enhances viral oncoprotein expression in infected cells.[54] Recommendations include applying broad-spectrum sunscreen with SPF 30 or higher daily, seeking shade during peak UV hours (10 a.m. to 4 p.m.), and wearing protective clothing, which collectively reduce skin cancer risk by limiting cumulative UV dose.[85] For at-risk patients, such as organ transplant recipients, immunosuppression management involves minimizing immunosuppressive drug doses when clinically feasible and regular dermatologic monitoring to balance rejection risk with MCC prevention.[86]Infection control measures for MCPyV, a ubiquitous skin-tropic virus with low interpersonal transmission risk, focus on basic hygiene in settings like childcare where skin-to-skin contact may occur.[43] Handwashing with soap and water, avoiding shared personal items, and preventing skin trauma through protective barriers can limit potential spread, though evidence for efficacy is limited due to the virus's early-life acquisition in over 90% of adults.[43]No routine population-based screening for MCPyV exists, given its high seroprevalence and lack of actionable interventions for positive cases. Targeted serologic testing for MCPyV antibodies is recommended for transplant candidates to assess infection status and stratify MCC risk, enabling tailored immunosuppression protocols.[87]Recent preclinical studies in 2025 have shown promise for therapeutic mRNA vaccines targeting MCPyV large T antigen oncoproteins, enhanced with IL-7 to boost T-cell responses and prevent viral reactivation in immunosuppressed models, achieving durable tumor suppression in up to 70% of cases.[88]
Treatment
The primary treatment for localized Merkel cell carcinoma (MCC) involves surgical excision with 1-2 cm margins to achieve clear margins, often followed by sentinel lymph node biopsy for staging. A 2025 phase III trial (STAMP) showed that adjuvant pembrolizumab after surgery improved recurrence-free survival in high-risk patients.[89] Adjuvant radiation therapy (typically 50-60 Gy) is recommended for cases with positive margins, lymphovascular invasion, or nodal involvement to improve local and regional control. For metastatic MCC, first-line chemotherapy regimens such as platinum-based agents combined with etoposide (e.g., carboplatin-etoposide) are used for rapid symptom control, achieving objective response rates of 57-69%, though responses are generally short-lived with no proven overall survival benefit.[90]Immunotherapy with PD-1/PD-L1 inhibitors has transformed management of advanced MCC, with avelumab (anti-PD-L1, approved 2017), pembrolizumab (anti-PD-1, approved 2018), and retifanlimab (anti-PD-1, accelerated approval 2023) demonstrating objective response rates of 33-58% and durable responses in chemotherapy-refractory patients.[90] These agents are particularly effective in MCPyV-positive MCC, where viral antigens enhance immunogenicity, leading to response rates of approximately 56% and progression-free survival rates approaching 40% at 3 years in first-line settings.[91] Updated 2025 data from real-world analyses and trials confirm the durability of these responses, with 3-year overall survival rates of about 60% in responders.[92] In contrast, MCPyV-negative MCC, driven by UV-induced mutations, shows comparable but slightly lower sustained responses to immunotherapy, often necessitating adjunctive approaches targeting UV signatures such as topical therapies in select cases.[93]No direct antiviral therapies targeting MCPyV are currently approved for MCC, as the integrated viral genome limits replication inhibition.[94] However, virus-specific strategies focusing on large T (LT) antigen are under investigation, including engineered T-cell therapies directed against LT epitopes and Rb pathway inhibitors to disrupt LT-mediated cell cycle deregulation, with preclinical and early-phase trials showing promise in MCPyV-positive tumors.[95]Prognostic differences by MCPyV status influence therapeutic selection, with virus-positive cases exhibiting superior immunotherapy responses due to neoantigen presentation from truncated T antigens, contributing to median overall survival exceeding 16 months in advanced disease.[96] Preclinical studies have explored PI3K inhibitors (e.g., alpelisib) for small T (ST) antigen-driven cases, where ST activates the PI3K/AKT pathway.[94] Overall, immunotherapy has doubled population-level survival for advanced MCC, with 5-year overall survival rising to nearly 30%.[97]