The impact of molecular morphology techniques on the expert diagnosis in melanocytic skin neoplasms

Int J Surg Pathol. 2013 Oct;21(5):483-92. doi: 10.1177/1066896913491323. Epub 2013 Jun 17.

Abstract

Thirteen melanocytic skin neoplasms with a consultation diagnosis by A. Bernard Ackerman were submitted to immunohistochemistry for HMB-45, Ki67, cyclin D1, e-cadherin, and p16; 9/13 cases underwent fluorescence in situ hybridization (FISH) test targeting 6p25 (RREB1), 6q23 (MYB), centromere 6 (Cep6), and 11q13 (CCND1), as well as the centromere 7 (Cep7). A "consensus diagnosis" among 3 experts was also advocated both before and after morphomolecular information. Three neoplasms with a consultation diagnosis of Spitz nevus showed at least 3 abnormal immunohistochemical patterns; 2 of these cases were also FISH-positive for CCND1 gain, but none of them had a final consensus diagnosis of melanoma. Two neoplasms with a consultation diagnosis of congenital nevus received a consensus diagnosis of melanoma. Molecular morphology techniques can highlight the atypical features of melanocytic neoplasms and support existence of a morphobiologic "spectrum": This should be mirrored in the final report by abandoning the dichotomic (benign vs malignant) diagnostic approach.

Keywords: atypical nevus; fluorescence in situ hybridization; immunohistochemistry; melanoma.

MeSH terms

  • Adult
  • Biomarkers, Tumor / analysis*
  • Female
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Male
  • Melanoma / diagnosis*
  • Melanoma / genetics
  • Melanoma / metabolism
  • Middle Aged
  • Nevus, Pigmented / diagnosis
  • Nevus, Pigmented / genetics
  • Nevus, Pigmented / metabolism
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / metabolism

Substances

  • Biomarkers, Tumor