Lymph node metastases of melanoma: Challenges for BRAF mutation detection

Guoli Chen, Jonathan Dudley, Li Hui Tseng, Kirstin Smith, Grzegorz T. Gurda, Christopher Gocke, James Eshleman, Ming-Tseh Lin

Research output: Contribution to journalArticle

Abstract

Detection of B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations is required to predict response to BRAF or mitogen-activated protein kinase kinase 1 and 2 inhibitors in metastatic melanoma. Lymph node (LN) specimens carrying melanoma cells intermingled with abundant lymphocytes often contain low tumor cellularity. This study is aimed to examine challenges in the clinical detection of BRAF mutations in LN specimens with metastatic melanoma and to illustrate characteristic features of p.V600E and non-p.V600E mutations. In this retrospective study for quality assessment of the pyrosequencing assay, we compared characteristics of 53 LN and 135 non-LN formalin-fixed, paraffin-embedded specimens with metastatic melanoma submitted for BRAF mutation detection over a 40-month period. LN specimens showed a significantly higher incidence of p.V600E mutations than non-LN specimens (49% versus 22%, P

Original languageEnglish (US)
Pages (from-to)113-119
Number of pages7
JournalHuman Pathology
Volume46
Issue number1
DOIs
Publication statusPublished - Jan 1 2015

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Keywords

  • BRAF
  • Lymph node
  • Melanoma
  • Mutant allele-specific imbalance
  • Tumor cellularity

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

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