Distinction of 2 Different Primary Merkel Cell Carcinomas in 1 Patient by Merkel Cell Polyomavirus Genome Analysis

Multiple Merkel cell carcinomas: Late metastasis or multiple primary tumors? A molecular study

“…To our knowledge, there have only been 3 studies to date that have used genomic analysis to investigate the relationship between multiple cutaneous MCCs 6, 7, 8. Nagy et al 7 used aCGH to show that although MCCs of the lip and palatine tonsil, separated in time by 7 years, showed 31 distinct copy number alterations, they did not arise independently, as they shared copy number changes at 45 other chromosomal loci 7 .…”

“…Nagy et al 7 used aCGH to show that although MCCs of the lip and palatine tonsil, separated in time by 7 years, showed 31 distinct copy number alterations, they did not arise independently, as they shared copy number changes at 45 other chromosomal loci 7 . Ahronowitz et al 6 used aCGH testing of an MCC of the right cheek and left ankle that presented within 4 months of one another with negative SLNB and PET/CT scan on presentation, to show identical copy number variation profiles 8 . These studies indicate that physically disparate cutaneous MCCs may represent metastasis rather than separate primary tumors, even after prolonged time intervals and in the absence of lymph node or distant organ involvement.…”

“…In addition to detecting the presence of viral DNA, MCpV genome sequencing could potentially be used to distinguish between primary and recurrent or metastatic disease. In 2010, Schrama et al 8 found different mutations in the MCpV large T-antigen DNA from 2 MCCs of the contralateral arms, separated in time by 6 years, suggesting 2 primary tumors. In our case, we were unable to perform MCpV genome sequencing or testing because of the age of our specimens and the difficulty in analyzing FFPE samples.…”

Human Polyomaviruses in Skin Diseases

“…A similar scenario might have been the case for the patient studied by Wetzels et al, hence explaining the presence of viral particles in MCPyV-positive MCC cells of this patient. Yet, another group reported sequences encoding full length LT-ag in MCC, jeopardizing the role of truncated LT-ag in the development of MCC [95]. In conclusion, MCPyV-positive MCC can express truncated LT-ag or/and full-length LT-ag as a result of integrated MCPyV genome encoding mutated LT-ag or/and episomal genome copies encoding wild-type LT-ag, respectively.…”

Involvement of Merkel Cell Polyomavirus in the Etiology and Pathogenesis of Merkel Cell Carcinoma: A Systematic Review

“…There is no apparent correlation between age or sex of individuals and the infection by MCV, however, for MCC cases, a slight tendency in females was observed [42]. Although it is most common in the skin, the MCC can metastasize [43 -46] or become recurrent, while this makes it difficult to differentiate these two events [47].…”