Short communicationMyxoinflammatory fibroblastic sarcoma showing t(2;6)(q31;p21.3) as a sole cytogenetic abnormality
Introduction
Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade mesenchymal neoplasm that predominantly involves distal extremities. MIFS is also known as acral myxoinflammatory fibroblastic sarcoma [1], inflammatory myxohyaline tumor of the distal extremities with virocyte or Reed–Sternberg–like cells [2], or inflammatory myxoid tumor of the soft parts with bizarre giant cells [3]. Histologically, MIFS shows a multinodular architecture wherein distinctive large bizarre cells with prominent nucleoli associated with an intense inflammatory infiltrate are found [1], [2], [3]. The biology of MIFS is still poorly understood, and only two other cases have been characterized by cytogenetic analysis [4], [5]. Here, we describe a third case, with chromosome translocation t(2;6)(q31;p21.3) as the single cytogenetic abnormality.
Section snippets
Case report
A 53-year-old man presented with a 1-year history of progressive swelling in his foot between the third and fourth metatarsals. Magnetic resonance imaging studies showed extensive soft tissue edema but no distinct neoplasm. A diagnostic core biopsy revealed only chronic inflammation. Because of the nonspecific findings, an incisional biopsy was performed, and the diagnosis of MIFS was rendered. The patient underwent a transmetatarsal amputation. Macroscopic inspection showed a myxoid
Discussion
A recently recognized low-grade sarcoma, MIFS affects predominantly the distal extremities of adults [1], [2], [11], [12]. Histologically, MIFS is a multinodular inflammatory myxoid neoplasm that characteristically shows large epithelioid cells with prominent nucleoli resembling Reed–Sternberg cells intermixed with an intense inflammatory component.
The molecular genetics of MIFS is still poorly understood, and only two previous cases have been cytogenetically characterized. The first case,
Acknowledgments
Editing, proofreading, and reference verification were provided by the Section of Scientific Publications, Mayo Clinic.
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TGFBR3 and MGEA5 rearrangements are much more common in "hybrid" hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: A morphological and fluorescence in situ hybridization study
2016, Human PathologyCitation Excerpt :Unbalanced rearrangements of TGFBR3 and MGEA5 have also been identified by Antonescu and colleagues [7] in 5 of 7 MIFSs, all apparently prospectively diagnosed. Other studies, however, have not identified these genetic events in MIFS, either by traditional cytogenetics [14–16] or with molecular methods [17]. We have previously identified TGFBR3 and/or MGEA5 rearrangements in only 1 of 6 MIFS as part of a larger study emphasizing PHAT [11].
Recently described and recently re-evaluated soft tissue tumours
2015, Diagnostic HistopathologyCitation Excerpt :The lipoblast-like cells have cytoplasmic pseudoinclusions with mucin. Complex and heterogeneous karyotypes have been reported in lesions believed to be MIFS, including distinct DNA copy number changes involving chromosome 7 and DNA aneuploidy23 ring chromosomes,24 chromosome translocation t(2;6)(q31;p21.3),25 and t(1;10)(p22;q24) resulting in gene rearrangements of TGFBR3 and MGEA5.26,27 Haemosiderotic fibrolipomatous tumour (HFLT) was first reported as haemosiderotic fibrohistiocytic lipomatous lesion by Marshall-Taylor and Fanburg-Smith in 2000.28
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2013, Practical Soft Tissue Pathology: A Diagnostic Approach A Volume in the Pattern Recognition SeriesTumors with Myxoid Stroma
2013, Practical Soft Tissue Pathology: A Diagnostic Approach A Volume in the Pattern Recognition SeriesComplex analysis of a recurrent pleomorphic hyalinizing angiectatic tumor of soft parts
2012, Human PathologyCitation Excerpt :The most important finding in the present case was the identification of cytogenetic abnormalities characterized by unbalanced translocations involving chromosomes 1 and 3 and chromosomes 1 and 10. Interestingly, chromosomal aberrations with t(1;10) and a complex rearrangement of chromosome 3 have been recently reported in a case of HFT [12] and were also found, by a number of groups, in a low-grade sarcoma referred to as myxoinflammatory fibroblastic sarcoma (MIFS) [12-17]. The latter is characterized by nodular growth of polymorphous fibroblastic cells, myxoid stroma, an inflammatory infiltrate, and virocyte-like cells.