{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:31:08Z","timestamp":1791858668319,"version":"4.3.4"},"reference-count":40,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,11]]},"abstract":"Myxoinflammatory fibroblastic sarcoma (MIFS) is a low grade soft tissue sarcoma with a predilection for acral sites, being associated with a high rate of local recurrence but very infrequent distant metastases. Although a t(1;10) translocation resulting in TGFBR3<\/jats:italic>-MGEA5<\/jats:italic> fusion has been reported as a recurrent genetic event in MIFS, this abnormality is seen only in a subset of cases. As no studies to date have investigated the spectrum of alternative genetic alterations in TGFBR3<\/jats:italic>-MGEA5<\/jats:italic> fusion negative MIFS, we undertook a genetic analysis of this particular cohort for further molecular classification. Triggered by an index case occurring in the finger of a 37-year-old female and harboring a novel TOM1L2-BRAF<\/jats:italic> fusion by targeted RNA sequencing we investigated potential recurrent BRAF<\/jats:italic> abnormalities by screening a large group of 19 TGFBR3<\/jats:italic>-MGEA5<\/jats:italic> fusion negative MIFS by fluorescence in situ hybridization. There were 6 (32%) additional MIFS with BRAF<\/jats:italic> genetic abnormalities, including 5 gene rearrangements and one showing BRAF<\/jats:italic> amplification. Interestingly, VGLL3<\/jats:italic> amplification, a recurrent genetic abnormality coexisting with t(1;10) in some MIFS, was also detected by fluorescence in situ hybridization in 4\/6 (67%) BRAF<\/jats:italic>-rearranged MIFS, but not in the BRAF<\/jats:italic>-amplified case. Up-regulated VGLL3<\/jats:italic> mRNA expression was also demonstrated in the index case by RNA sequencing. The 7 BRAF<\/jats:italic>-rearranged\/amplified MIFS arose in the fingers (n=3), and 1 each in wrist, forearm, foot, and knee, of adult patients (36 to 74 y; M:F=4:3). The histologic spectrum ranged from predominantly solid growth of plump histiocytoid to epithelioid tumor cells with focal myxoid change to a predominantly myxoid background with scattered tumor cells. Varying degree of inflammatory infiltrates and large tumor cells with virocyte-like macronucleoli were observed in most cases. Immunohistochemical stains of phosphorylated ERK, a downstream effector of BRAF activation, were positive in all 4 cases tested (2 diffuse strong, 2 focal strong). Unlike t(1;10), BRAF<\/jats:italic> rearrangements were only found in MIFS but not in 6 hemosiderotic fibrolipomatous tumor (HFLT) lacking TGFBR3-MGEA5<\/jats:italic> fusions (including 2 pure HFLT, 2 hybrid HFLT-MIFS, and 2 associated with pleomorphic hyalinizing angiectatic tumors).<\/jats:p>","DOI":"10.1097\/pas.0000000000000899","type":"journal-article","created":{"date-parts":[[2017,7,8]],"date-time":"2017-07-08T20:45:09Z","timestamp":1499546709000},"page":"1456-1465","source":"Crossref","is-referenced-by-count":54,"title":["Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors"],"prefix":"10.1097","volume":"41","author":[{"given":"Yu-Chien","family":"Kao","sequence":"first","affiliation":[{"name":"Department of Pathology, Memorial Sloan Kettering Cancer Center"},{"name":"Department of Pathology, Shuang Ho Hospital, Taipei Medical University, Taipei, 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