Case of mesenchymal tumor with the PPP6R3-USP6 fusion, possible nodular fasciitis with malignant transformation.

Abstract:

: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.

journal_name

Pathol Int

journal_title

Pathology international

authors

Teramura Y,Yamazaki Y,Tanaka M,Sugiura Y,Takazawa Y,Takeuchi K,Nakayama T,Kaneko T,Musha Y,Funauchi Y,Ae K,Matsumoto S,Nakamura T

doi

10.1111/pin.12851

subject

Has Abstract

pub_date

2019-12-01 00:00:00

pages

706-709

issue

12

eissn

1320-5463

issn

1440-1827

journal_volume

69

pub_type

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