CK20- and Virus-negative Merkel Cell Carcinoma with Complete RB1 Loss and TP53/ APC Truncations

Authors

  • Motoki Hada Department of Dermatology, Integrated Medicine, Graduate School of Medicine, The University of Osaka, Osaka, Japan
  • Hiroyuki Morisaka Department of Dermatology, Integrated Medicine, Graduate School of Medicine, The University of Osaka, Osaka, Japan; Department of Stem Cell Gene Therapy Science, Graduate School of Medicine, The University of Osaka, Osaka, Japan https://orcid.org/0000-0002-1158-8116
  • Yutaka Matsumura Department of Dermatology, Integrated Medicine, Graduate School of Medicine, The University of Osaka, Osaka, Japan
  • Yosuke Ishitsuka Department of Dermatology, Integrated Medicine, Graduate School of Medicine, The University of Osaka, Osaka, Japan
  • Manabu Fujimoto Department of Dermatology, Integrated Medicine, Graduate School of Medicine, The University of Osaka, Osaka, Japan; Cutaneous Immunology, Immunology Frontier Research Center, The University of Osaka, Osaka, Japan

DOI:

https://doi.org/10.2340/actadv.v106.adv-2026-0514

Keywords:

Merkel cell carcinoma, Cytokeratin 20-negative, Merkel cell polyomavirus, RB1, TP53, APC

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References

Albores-Saavedra J, Batich K, Chable-Montero F, Sagy N, Schwartz AM, Henson DE. Merkel cell carcinoma demographics, morphology, and survival based on 3870 cases: a population based study. J Cutan Pathol 2010; 37: 20–27. DOI: https://doi.org/10.1111/j.1600-0560.2009.01370.x

Miner AG, Patel RM, Wilson DA, Procop GW, Minca EC, Fullen DR, et al. Cytokeratin 20-negative Merkel cell carcinoma is infrequently associated with the Merkel cell polyomavirus. Mod Pathol 2015; 28: 498–504. DOI: https://doi.org/10.1038/modpathol.2014.148

Harms PW, Collie AMB, Hovelson DH, Cani AK, Verhaegen ME, Patel RM, et al. Next generation sequencing of Cytokeratin 20-negative Merkel cell carcinoma reveals ultraviolet-signature mutations and recurrent TP53 and RB1 inactivation. Mod Pathol 2016; 29: 240–248. DOI: https://doi.org/10.1038/modpathol.2015.154

Starrett GJ, Thakuria M, Chen T, Marcelus C, Cheng J, Nomburg J, et al. Clinical and molecular characterization of virus-positive and virus-negative Merkel cell carcinoma. Genome Med 2020; 12: 30. DOI: https://doi.org/10.1186/s13073-020-00727-4

Moshiri AS, Doumani R, Yelistratova L, Blom A, Lachance K, Shinohara MM, et al. Polyomavirus-negative Merkel cell carcinoma: a more aggressive subtype based on analysis of 282 cases using multimodal tumor virus detection. J Invest Dermatol 2017; 137: 819–827. DOI: https://doi.org/10.1016/j.jid.2016.10.028

Walsh NM, Cerroni L. Merkel cell carcinoma: a review. J Cutan Pathol 2021; 48: 411–421. DOI: https://doi.org/10.1111/cup.13910

Kervarrec T, Appenzeller S, Samimi M, Sarma B, Sarosi EM, Berthon P, et al. Merkel cell polyomavirus–negative Merkel cell carcinoma originating from in situ squamous cell carcinoma: a keratinocytic tumor with neuroendocrine differentiation. J Invest Dermatol 2022; 142: 516–527. DOI: https://doi.org/10.1016/j.jid.2021.07.175

Martincorena I, Roshan A, Gerstung M, Ellis P, Van Loo P, McLaren S, et al. Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin. Science 2015; 348: 880–886. DOI: https://doi.org/10.1126/science.aaa6806

Published

2026-08-04

How to Cite

Hada, M., Morisaka, H., Matsumura, Y., Ishitsuka, Y., & Fujimoto, M. (2026). CK20- and Virus-negative Merkel Cell Carcinoma with Complete RB1 Loss and TP53/ APC Truncations. Acta Dermato-Venereologica, 106, adv–2026. https://doi.org/10.2340/actadv.v106.adv-2026-0514

Issue

Section

Research letter