Update in molecular diagnostics in melanocytic neoplasms

Chelsea Cooper, Jennifer Sorrell, Pedram Gerami*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations

Abstract

Future classification systems for melanocytic neoplasms will likely include the integration of molecular aberrations. A number of studies have shown that many gene mutations and chromosomal copy number aberrations may correlate with characteristic clinical and morphologic features for melanocytic neoplasms. This review discusses newly described familial germline mutations such as the BRCA1-associated protein-1 familial melanoma syndrome, recently described somatic mutations, and chromosomal copy number aberrations recently described in melanoma. Further, we discuss how these specific molecular aberrations correlate with specific clinical and morphologic features in melanocytic neoplasm and their implications for prognosis and molecular diagnostics. In addition, we discuss state of the art advancements in molecular diagnostics for melanocytic neoplasms and newly developed fluorescence in situ hybridization assays including the utility of fluorescence in situ hybridization for 9p21 in spitzoid melanocytic neoplasms. Lastly, we discuss a phenomenon known as paradoxical activation of wild-type BRAF seen in patients treated with vemurafenib and some potential clinical presentations of this process.

Original languageEnglish (US)
Pages (from-to)410-416
Number of pages7
JournalAdvances in anatomic pathology
Volume19
Issue number6
DOIs
StatePublished - Nov 1 2012

Keywords

  • Fluorescence in situ hybridization
  • Melanoma
  • Nevi
  • Spitz nevi
  • Spitz tumor

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine

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