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- Title
Subungual melanoma with cartilaginous differentiation: Molecular insights.
- Authors
Shaikh, Umayr; Shah, Payal; Jones, Victoria; Ramos‐Rodriguez, Alvaro J.; Sriharan, Aravindhan; Loo, Eric; Khan, Wahab A.; Simmons, Brian; Cloutier, Jeffrey M.
- Abstract
Melanoma's rare capacity to undergo heterologous differentiation can create significant diagnostic challenges. The molecular mechanisms underlying this phenomenon are not well understood. We present an unusual case of subungual melanoma exhibiting extensive cartilaginous differentiation and provide insights into its molecular and cytogenomic features. Histopathologically, the tumor was predominantly composed of nodules of malignant cartilage in association with a smaller population of nested epithelioid to rhabdoid cells. Immunohistochemically, the tumor cells in both components were positive for S100, SOX10, and PRAME, and were negative for Melan‐A and HMB‐45. Molecular analysis by whole exome DNA sequence did not detect any pathogenic variants in genes commonly implicated in melanoma. Additional analysis by SNP chromosomal microarray revealed a complex genome characterized by numerous chromosomal losses and gains, including a homozygous deletion of the CDKN2A locus and a heterozygous deletion of the locus containing EXT2, a tumor suppressor implicated in hereditary multiple osteochondromas and secondary chondrosarcomas. This case underscores the importance of recognizing cartilaginous differentiation as a rare manifestation of melanoma, particularly at subungual sites, and suggests that at least some of these melanomas may be driven by non‐canonical molecular pathways.
- Subjects
MELANOMA; WNT signal transduction; EXOMES; NUCLEOTIDE sequence; GENETIC variation; DNA sequencing; CELL anatomy; TUMOR suppressor genes
- Publication
Journal of Cutaneous Pathology, 2024, Vol 51, Issue 8, p576
- ISSN
0303-6987
- Publication type
Article
- DOI
10.1111/cup.14630