Gene expression and mutational profile in bap-1 inactivated melanocytic lesions of progressive malignancy from a patient with multiple lesions

Yan Zhou, Andrew C Nelson, Yuyu He, Sarah A Munro, Kyu Young Song, Evidio Domingo-Musibay, Alessio Giubellino

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

BAP-1 (BRCA1-associated protein 1) inactivated melanocytic lesions are a group of familial or sporadic lesions with unique histology and molecular features. They are of great clinical interest, at least in part due to the potential for malignant transformation and association with a familial cancer predisposition syndrome. Here, we describe a patient with multiple spatially and temporally distinct melanocytic lesions with loss of BAP1 expression by immunohistochemistry. RNA sequencing was performed on three independent lesions spanning the morphologic spectrum: a benign nevus, an atypical tumor, and a melanoma arising from a pre-existing BAP1-inactivated nevus. The three lesions demonstrated largely distinct gene expression and mutational profiles. Gene expression analysis revealed that genes involved in receptor protein kinase pathways were progressively upregulated from nevus to melanoma. Moreover, a clear enrichment of genes regulated in response to UV radiation was found in the melanoma from this patient, as well as upregulation of MAPK pathway-related genes and several transcription factors related to melanomagenesis.

Original languageEnglish (US)
Article number10
JournalGenes
Volume13
Issue number1
DOIs
StatePublished - Jan 2022

Bibliographical note

Funding Information:
Funding: This research was funded by start-up funds from the Department of Laboratory Medicine and Pathology/Masonic Cancer Center, University of Minnesota.

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.

Keywords

  • BAP1
  • MAPK
  • Melanocytic lesions
  • Melanoma
  • Receptor protein kinase
  • UV radiation response

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