title: Next-generation sequencing reveals rare genomic alterations in aggressive digital papillary adenocarcinoma.
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.
authors.affiliation: Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address: diana.bell@mdanderson.org.
authors.forename: Diana
authors.initials: D
authors.lastname: Bell
authors.affiliation: Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
authors.forename: Phyu
authors.initials: P
authors.lastname: Aung
authors.affiliation: Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
authors.forename: Victor G
authors.initials: VG
authors.lastname: Prieto
authors.affiliation: Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
authors.forename: Doina
authors.initials: D
authors.lastname: Ivan
mesh_terms: D000231:Adenocarcinoma, Papillary / Q000235:genetics* / Q000473:pathology; D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005385:Fingers / Q000473:pathology*; D005528:Foot / Q000473:pathology*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012189:Retrospective Studies; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: Aggressive digital papillary adenocarcinoma (ADPA); BRAF mutation; comprehensive genomic profiling; therapeutic target