Unclassified sclerosing malignant melanomas with AKAP9-BRAF gene fusion: a report of two cases and review of BRAF fusions in melanocytic tumors.

Details

Serval ID
serval:BIB_E58182E9989F
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Unclassified sclerosing malignant melanomas with AKAP9-BRAF gene fusion: a report of two cases and review of BRAF fusions in melanocytic tumors.
Journal
Virchows Archiv
Author(s)
Perron E., Pissaloux D., Neub A., Hohl D., Tartar M.D., Mortier L., Alberti L., de la Fouchardiere A.
ISSN
1432-2307 (Electronic)
ISSN-L
0945-6317
Publication state
Published
Issued date
03/2018
Peer-reviewed
Oui
Volume
472
Number
3
Pages
469-476
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Review
Publication Status: ppublish
Abstract
The current classification of melanocytic tumors includes clinical, pathological, and molecular data. A subset of lesions remains difficult to classify according to these complex multilayer schemes. We report two cases of deeply infiltrating melanomas with a sclerosing background. The first case occurred on the back of a middle-aged man appearing clinically as a dermatofibroma. The architectural and cytological aspects resembled those of a desmoplastic melanoma but the strong expression of both melanA and HMB45, two stainings usually reported as negative in this entity, raised the question of an alternate diagnosis. The second case was a large, slowly growing, perivulvar tumor in a middle-aged woman. The morphology was complex with a central junctional spitzoid pattern associating an epidermal hyperplasia with large nests of large spindled melanocytes. The dermal component was made of deeply invasive strands and nests of nevoid unpigmented melanocytes surrounded by fibrosis; a perineural invasion was present at the periphery of the lesion. In both cases, aCGH found, among many other anomalies, a chromosomal breakpoint at the BRAF locus. RNA sequencing identified in both an AKAP9-BRAF gene fusion. A complementary resection was performed and no relapses have been observed in the respectively 15 and 6 months of follow-up. Both of these melanomas remained unclassified. We further review the variety of melanocytic tumors associated with such BRAF fusions.

Keywords
A Kinase Anchor Proteins/genetics, Adult, Cytoskeletal Proteins/genetics, Diagnosis, Differential, Female, Humans, Male, Melanoma/diagnosis, Melanoma/genetics, Middle Aged, Neoplasm Recurrence, Local/diagnosis, Neoplasm Recurrence, Local/genetics, Nevus, Pigmented/diagnosis, Nevus, Pigmented/genetics, Proto-Oncogene Proteins B-raf/genetics, Skin Neoplasms/diagnosis, Skin Neoplasms/genetics, Skin Neoplasms/pathology, BRAF fusion, Desmoplastic stromal reaction, Melanocytic tumors, Melanoma
Pubmed
Web of science
Create date
01/03/2018 18:12
Last modification date
20/08/2019 16:08
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