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Case of mesenchymal tumor with the PPP6R3‐USP6 fusion, possible nodular fasciitis with malignant transformation
Author(s) -
Teramura Yasuyo,
Yamazaki Yukari,
Tanaka Miwa,
Sugiura Yoshiya,
Takazawa Yutaka,
Takeuchi Kengo,
Nakayama Takayuki,
Kaneko Takao,
Musha Yoshiro,
Funauchi Yuki,
Ae Keisuke,
Matsumoto Seiichi,
Nakamura Takuro
Publication year - 2019
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/pin.12851
Subject(s) - nodular fasciitis , fusion gene , pathology , fluorescence in situ hybridization , malignant transformation , biology , gene , cancer research , soft tissue , medicine , chromosome , genetics
Nodular fasciitis (NF) is a self‐limiting benign disease that is characterized by rapid proliferation of fibroblastic and myofibroblastic cells. The characteristic gene fusion containing the USP6 gene is a genetic hallmark of NF and MYH9‐USP6 is the most frequent fusion, suggesting that NF is not a reactive condition but a neoplastic disease. Malignant transformation of NF has been reported rarely as a single case associated with the PPP6R3‐USP6 fusion. Here we report a case of soft part tumor of which the histological feature was a typical NF but showed aggressive and non‐regressing growth with local invasion. Targeted RNA sequencing and fluorescence in situ hybridization analysis identified PPP6R3‐USP6 with gene amplification. These findings indicate that the present case is the second case of malignant NF, and we suggest potential malignant transformation in certain NF cases.