Molecular characterization of biphenotypic epithelioid and plexiform melanoma with deep penetrating nevus-like features

Alessio Giubellino, Andrew C Nelson, Yuyu He, Sarah A Munro, Kyu Young Song, Isabella C. Glitza Oliva, Carlos Torres-Cabala

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Tumor heterogeneity is a relevant hallmark of melanoma due to the high mutation burden and immunogenicity commonly encountered. Heterogeneity at the histologic level frequently corresponds to heterogeneity at the molecular level. A better understanding of this feature of malignancy can help refine the development of predictive biomarkers and to define more effective targeted therapies. Here, we describe a case of melanoma displaying a dual phenotype: a DPN-like/plexiform portion in conjunction with a conventional epithelioid morphology. Molecular studies revealed shared BRAF and PTEN mutations in both components but a CTNNB1 mutation was exclusively found in the DPN-like area of the tumor, consistent with the distinct morphology observed. There was considerable heterogeneity in sequence variants identified in the two regions. Gene expression analysis highlighted differentially regulated genes between the two histologies, including a relevant cluster of genes in the receptor tyrosine kinase (RTK) family and related signaling pathways upregulated in the DPN-like/plexiform area.

Original languageEnglish (US)
Pages (from-to)229-237
Number of pages9
JournalPigment Cell and Melanoma Research
Volume35
Issue number2
DOIs
StatePublished - Mar 2022

Bibliographical note

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

Publisher Copyright:
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

Keywords

  • deep penetrating nevus
  • epithelial-mesenchimal transition
  • heterogeneity
  • melanoma
  • receptor tyrosine kinases

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