PMID- 33318581 OWN - NLM STAT- MEDLINE DCOM- 20211214 LR - 20230210 IS - 1530-0285 (Electronic) IS - 0893-3952 (Linking) VI - 34 IP - 5 DP - 2021 May TI - Recurrent FOS rearrangement in proliferative fasciitis/proliferative myositis. PG - 942-950 LID - 10.1038/s41379-020-00725-2 [doi] AB - Proliferative fasciitis (PF) and proliferative myositis (PM) are rare benign soft tissue lesions, usually affecting the extremities of middle-aged or older adults. Presenting as poorly circumscribed masses, they histologically show bland spindle cell proliferation in a myxoid to fibrous background and a hallmark component of large epithelioid "ganglion-like" cells in various numbers, which may lead to their misdiagnosis as sarcoma. PF/PM has been long considered as reactive, akin to nodular fasciitis; however, its pathogenesis has remained unknown. In this study, we analyzed the FOS status in 6 PF/PMs (5 PFs and 1 PM). Five PF/PMs occurred in adults, all showing diffuse strong expression of c-FOS primarily in the epithelioid cells, whereas spindle cell components were largely negative. Using fluorescence in situ hybridization (FISH), all 5 c-FOS-immunopositive tumors showed evidence of FOS gene rearrangement in the epithelioid cells. RNA sequencing in 1 case detected a FOS-VIM fusion transcript, which was subsequently validated by reverse transcriptase-polymerase chain reaction, Sanger sequencing, and VIM FISH. The one pediatric PF case lacked c-FOS expression and FOS rearrangement. c-FOS immunohistochemistry was negative in 45 cases of selected mesenchymal tumor types with epithelioid components that may histologically mimic PF/PM, including pleomorphic sarcoma with epithelioid features and epithelioid sarcoma. Recurrent FOS rearrangement and c-FOS overexpression in PF/PM suggested these lesions to be neoplastic. FOS abnormality was largely restricted to the epithelioid cell population, clarifying the histological composition of at least 2 different cell types. c-FOS immunohistochemistry may serve as a useful adjunct to accurately distinguish PF/PM from mimics. FAU - Makise, Naohiro AU - Makise N AUID- ORCID: 0000-0002-6991-747X AD - Department of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. FAU - Mori, Taisuke AU - Mori T AUID- ORCID: 0000-0003-1838-7883 AD - Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan. AD - Division of Molecular Pathology, National Cancer Center Research Institute, Tokyo, Japan. FAU - Motoi, Toru AU - Motoi T AD - Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan. FAU - Shibahara, Junji AU - Shibahara J AD - Department of Pathology, Kyorin University School of Medicine, Tokyo, Japan. FAU - Ushiku, Tetsuo AU - Ushiku T AUID- ORCID: 0000-0002-1763-8380 AD - Department of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. FAU - Yoshida, Akihiko AU - Yoshida A AD - Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan. akyoshid@ncc.go.jp. AD - Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan. akyoshid@ncc.go.jp. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20201214 PL - United States TA - Mod Pathol JT - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc JID - 8806605 RN - 0 (Biomarkers, Tumor) RN - 0 (Proto-Oncogene Proteins c-fos) SB - IM MH - Biomarkers, Tumor MH - Fasciitis/*genetics/pathology MH - Female MH - *Gene Rearrangement MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - Myositis/*genetics/pathology MH - Proto-Oncogene Proteins c-fos/*genetics EDAT- 2020/12/16 06:00 MHDA- 2021/12/15 06:00 CRDT- 2020/12/15 06:00 PHST- 2020/09/04 00:00 [received] PHST- 2020/11/05 00:00 [accepted] PHST- 2020/10/09 00:00 [revised] PHST- 2020/12/16 06:00 [pubmed] PHST- 2021/12/15 06:00 [medline] PHST- 2020/12/15 06:00 [entrez] AID - S0893-3952(22)00623-8 [pii] AID - 10.1038/s41379-020-00725-2 [doi] PST - ppublish SO - Mod Pathol. 2021 May;34(5):942-950. doi: 10.1038/s41379-020-00725-2. Epub 2020 Dec 14.