Unclassified sclerosing malignant melanomas with AKAP9-BRAF gene fusion: a report of two cases and review of BRAF fusions in melanocytic tumors
| Autor: | Arnaud de la Fouchardière, Daniel Pissaloux, Daniel Hohl, Laurent Mortier, Angela Neub, Marie Dominique Tartar, Laurent Alberti, Emilie Perron |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Proto-Oncogene Proteins B-raf 0301 basic medicine Pathology medicine.medical_specialty Skin Neoplasms Perineural invasion A Kinase Anchor Proteins Locus (genetics) Dermatofibroma Pathology and Forensic Medicine Diagnosis Differential Fusion gene Lesion 03 medical and health sciences 0302 clinical medicine medicine Humans Melanoma Molecular Biology Pathological Desmoplastic melanoma Nevus Pigmented business.industry Cell Biology General Medicine Middle Aged medicine.disease Cytoskeletal Proteins 030104 developmental biology 030220 oncology & carcinogenesis Female Neoplasm Recurrence Local medicine.symptom business |
| Zdroj: | Virchows Archiv. 472:469-476 |
| ISSN: | 1432-2307 0945-6317 |
| DOI: | 10.1007/s00428-017-2290-0 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink