Molecular analysis of atypical deep penetrating nevus progressing to melanoma

Maria C. Isales, Ayesha U. Khan, Bin Zhang, Elsy V. Compres, Daniel Kim, Timothy L. Tan, Nike Beaubier, Pedram Gerami*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Deep penetrating nevi (DPN) are dermal-based, heavily pigmented melanocytic proliferations primarily resulting from mutations in B-catenin and BRAF or, less commonly, NRAS. DPNs are considered to be intermediate grade tumors which are stable with low risk of malignant transformation. The precise risk for transformation is unknown. Only rare cases of DPN progressing to melanoma have been described. We present a case of a 53-year-old female with a blue-black thigh lesion, on histopathology illustrating a melanocytic proliferation with morphology most consistent with a DPN progressing to melanoma. Targeted next generation sequencing performed on both the atypical melanocytic proliferation and melanoma components showed NRAS and CTNNB1 mutations but no evidence of TERT promoter mutation or chromosomal copy number aberrations. The melanoma had additional mutations including a hotspot TERT promoter mutation as well as unbalanced chromosomal copy number aberrations. This report details the progression of DPN to melanoma through a prominent ultraviolet signature and acquisition of genetic aberrations. While the vast majority of DPNs are benign stable nevi, there are rare examples, which may progress to melanoma. This report documents a case and shows the molecular evolution by which the tumor transformed to melanoma.

Original languageEnglish (US)
Pages (from-to)1150-1154
Number of pages5
JournalJournal of cutaneous pathology
Volume47
Issue number12
DOIs
StatePublished - Dec 2020

Keywords

  • atypical deep penetrating nevus
  • combined nevus
  • deep penetrating nevus
  • next generation sequencing
  • plexiform melanoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Dermatology

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