Deep penetrating nevus-like borderline tumors: A unique subset of ambiguous melanocytic tumors with malignant potential and normal cytogenetics

Eur J Dermatol. 2014 Sep-Oct;24(5):594-602. doi: 10.1684/ejd.2014.2393.

Abstract

Background: Deep penetrating nevi (DPN) are a relatively uncommon subtype of melanocytic nevi. A small subset of these lesions exhibit atypical features (cytologic and architectural atypia, mitotic activity) seen in melanoma. These lesions we term the deep penetrating nevus-like borderline tumor. Unequivocal melanomas can show overlapping morphologic features of DPN, which have been termed plexiform melanomas.

Patients and methods: 40 cases of DPN-like borderline tumor were identified along with 6 cases of plexiform melanoma. Clinical follow up was obtained, along with cytogenetic analysis in the form of fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization (CGH).

Results: The DPN-like borderline tumor cases included 24 females and 16 males. Of sentinel lymph node biopsies performed, 1/3 of cases showed lymph node involvement. All patients where an aggressive clinical approach was adopted remain free of disease. All 6 DPN-like borderline tumor cases tested by CGH showed normal cytogenetics, as did 7 of 9 cases tested by FISH. Of the plexiform melanomas, 4/6 patients died of disease. In 3 cases there was morphologic progression from a DPN-like borderline tumor to overt melanoma. In one case of progression, cytogenetics was normal in the DPN-like borderline tumor and then abnormal in the progressed melanoma.

Conclusion: DPN-like borderline tumors are melanocytic tumors associated with a high incidence of regional lymph node disease and exhibiting the potential for melanoma progression despite a normal cytogenetic profile. Patients with these lesions should be aggressively managed, with at least complete re-excision and consideration of sentinel node biopsy, regardless of cytogenetic data.

Keywords: ambiguous melanocytic tumor; borderline melanocytic tumor; deep penetrating nevus; deep penetrating nevus-like borderline tumor; melanocytic tumor of uncertain malignant potential.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cell Transformation, Neoplastic
  • Child
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 6
  • Comparative Genomic Hybridization
  • Cyclin D1 / genetics
  • DNA-Binding Proteins / genetics
  • Disease Progression
  • Female
  • Genes, myb / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphatic Metastasis
  • Male
  • Melanoma / genetics*
  • Melanoma / pathology*
  • Melanoma / secondary
  • Melanoma / surgery
  • Middle Aged
  • Nevus, Pigmented / genetics*
  • Nevus, Pigmented / pathology*
  • Nevus, Pigmented / surgery
  • Sentinel Lymph Node Biopsy
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology*
  • Skin Neoplasms / surgery
  • Transcription Factors / genetics
  • Young Adult

Substances

  • DNA-Binding Proteins
  • RREB1 protein, human
  • Transcription Factors
  • Cyclin D1