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A novel MAP3K7CL ‐ ERG fusion in a molecularly confirmed case of dermatofibrosarcoma protuberans with fibrosarcomatous transformation
Author(s) -
Maloney Nolan,
Bridge Julia A.,
de Abreu Francine,
Korkolopoulou Penelope,
Sakellariou Stratigoula,
Linos Konstantinos
Publication year - 2019
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13469
Subject(s) - dermatofibrosarcoma protuberans , fusion gene , dermis , oncogene proteins , sarcoma , biology , pathology , transformation (genetics) , cancer research , gene , medicine , genetics , regulation of gene expression
Dermatofibrosarcoma protuberans (DFSP) is a translocation‐associated, low‐grade sarcoma with fibroblastic differentiation. It is the most common superficial sarcoma, almost exclusively arising within the dermis. In a minority of cases, there is a transition from the conventional morphology to a fibrosarcomatous pattern, known as a fibrosarcomatous DFSP (FS‐DFSP). Although a number of different molecular alterations have been described to account for this transformation, it remains poorly understood. Herein we report the first case of a FS‐DFSP with a fusion between ERG, an ETS family transcription factor, and MAP3K7CL , a kinase gene rarely observed in fusion gene events.