Melanoma arising in plaque-type blue nevus and dermal melanocytosis: Diagnostic and prognostic value of BAP1

Actas Dermosifiliogr. 2023 Jul-Aug;114(7):636-641. doi: 10.1016/j.ad.2023.04.016. Epub 2023 Apr 23.
[Article in English, Spanish]

Abstract

Melanoma arising in blue nevus, also known as melanoma ex blue nevus, is a specific form of melanoma whose genetic profile is different to that of other cutaneous melanomas and surprisingly similar to that of uveal melanoma. Although melanoma ex blue nevus can appear de novo, it usually arises in a preexisting blue nevus or dermal melanocytosis. Not all nodular lesions arising in association with blue nevus or dermal melanocytosis are melanomas, however, and because clinical and histologic findings may be insufficient for a definitive diagnosis, additional studies such as comparative genomic hybridization are important. Detection of chromosomal aberrations supports a diagnosis of malignancy. Studies of the BAP1 gene are particularly useful in this setting because loss of expression is indicative of melanoma. We present 3 cases on the spectrum of blue nevus to melanoma ex blue nevus that were studied using molecular biology techniques.

Keywords: BAP1; Dermal melanocytosis; Melanocitosis dérmicas; Melanoma in blue nevus; Melanoma sobre sobre nevus azul; Nevus azul en placa; Plaque-type blue nevus.

Publication types

  • Case Reports

MeSH terms

  • Comparative Genomic Hybridization
  • Humans
  • Melanoma* / diagnosis
  • Melanoma* / genetics
  • Melanoma* / pathology
  • Nevus, Blue* / diagnosis
  • Nevus, Blue* / genetics
  • Nevus, Blue* / pathology
  • Prognosis
  • Skin Neoplasms* / diagnosis
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology
  • Tumor Suppressor Proteins / genetics
  • Ubiquitin Thiolesterase / genetics

Substances

  • BAP1 protein, human
  • Tumor Suppressor Proteins
  • Ubiquitin Thiolesterase