Next-generation sequencing reveals rare genomic alterations in aggressive digital papillary adenocarcinoma

Ann Diagn Pathol. 2015 Dec;19(6):381-4. doi: 10.1016/j.anndiagpath.2015.08.002. Epub 2015 Aug 28.

Abstract

Aggressive digital papillary adenocarcinoma (ADPA) is a rare cutaneous adnexal neoplasm that occurs on the fingers, toes, palms, and soles. It is characterized by aggressive biological behavior, with a relatively high potential for local recurrence (30%-40% of cases) and distant metastasis (up to 14%). This retrospective study assessed the mutation status of ADPA lesions to identify possible therapeutic targets. We performed comprehensive genomic profiling of 9 ADPA cases that had been identified in our database. We identified a BRAF-V600E (BRAF c.1799T>A p.V600E) mutation in 1 patient (11%). Complete surgical excision is the treatment of choice for ADPA; however, there are no uniform diagnostic guidelines or recognized effective treatments for metastasis, and no therapeutic targets have been identified. Targeted therapy may be a treatment option for patients with metastatic ADPA if a relevant oncogene mutation is identified. Further studies with a larger sample size are required to confirm our findings and identify more molecular mechanisms.

Keywords: Aggressive digital papillary adenocarcinoma (ADPA); BRAF mutation; comprehensive genomic profiling; therapeutic target.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Papillary / genetics*
  • Adenocarcinoma, Papillary / pathology
  • Adult
  • DNA Mutational Analysis / methods
  • Female
  • Fingers / pathology*
  • Foot / pathology*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Proto-Oncogene Proteins B-raf / genetics*
  • Retrospective Studies
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf