Myxoinflammatory fibroblastic sarcoma: investigations by comparative genomic hybridization of two cases and review of the literature

Baumhoer, Daniel; Glatz, Kathrin; Schulten, Hans-Juergen; Füzesi, L.; Fricker, R.; Kettelhack, Christoph; Hasenboehler, Paula; Oberholzer, M.; Jundt, Gernot

doi:10.1007/s00428-007-0480-x

Cited by 24 publications

(18 citation statements)

References 15 publications

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“…In an early report of MIFS, 2 cases were found to have chromosome 7 gains by comparative genomic hybridization, but the involved different regions (7q31q32 in one case; 7p15p21 in the other) did not encompass the BRAF locus (7q34). 34 Further investigations are needed to elucidate if BRAF amplification is a recurrent event in MIFS and is associated with any clinicopathologic features.…”

Section: Discussionmentioning

confidence: 99%

Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors

Kao

Ranucci

Zhang

et al. 2017

American Journal of Surgical Pathology

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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-MGEA5 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-MGEA5 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 fusion by targeted RNA sequencing we investigated potential recurrent BRAF abnormalities by screening a large group of 19 TGFBR3-MGEA5 fusion negative MIFS by FISH. There were 6 (32%) additional MIFS with BRAF genetic abnormalities, including 5 gene rearrangements and one showing BRAF amplification. Interestingly, VGLL3 amplification, a recurrent genetic abnormality coexisting with t(1;10) in some MIFS, was also detected by FISH in 4/6 (67%) BRAF-rearranged MIFS, but not in the BRAF-amplified case. Up-regulated VGLL3 mRNA expression was also demonstrated in the index case by RNAseq. The 7 BRAF-rearranged/amplified MIFS arose in the fingers (n=3), and 1 each in wrist, forearm, foot, and knee, of adult patients (36–74 years; M:F=4:3). The histological 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 rearrangements were only found in MIFS but not in 6 hemosiderotic fibrolipomatous tumor (HFLT) lacking TGFBR3-MGEA5 fusions (including 2 pure HFLT, 2 hybrid HFLT-MIFS, and 2 associated with pleomorphic hyalinizing angiectatic tumors).

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Section: Discussionmentioning

confidence: 99%

Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors

Kao

Ranucci

Zhang

et al. 2017

American Journal of Surgical Pathology

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“…Most myxoinflammatory fibroblastic sarcomas show complex, near-diploid, or hypotriploid karyotypes [100][101][102][103]. CGH analyses showed gains of chromosome 7 in two cases [101].…”

Section: Myxoinflammatory Fibroblastic Sarcoma (Inflammatory Myxohyalmentioning

confidence: 97%

“…CGH analyses showed gains of chromosome 7 in two cases [101]. Distinctive abnormalities in myxoinflammatory fibroblastic sarcoma are the frequent presence of a balanced or unbalanced t(1;10) (p22;q24) translocation [100][101][102], ring chromosomes [102,103], and amplification of the chromosomal region 3p11-12 [103].…”

Section: Myxoinflammatory Fibroblastic Sarcoma (Inflammatory Myxohyalmentioning

confidence: 97%

Soft tissue sarcomas with complex genomic profiles

2009

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Soft tissue sarcomas (STS) with complex genomic profiles (50% of all STS) are predominantly composed of spindle cell/pleomorphic sarcomas, including leiomyosarcoma, myxofibrosarcoma, pleomorphic liposarcoma, pleomorphic rhabdomyosarcoma, malignant peripheral nerve sheath tumor, angiosarcoma, extraskeletal osteosarcoma, and spindle cell/pleomorphic unclassified sarcoma (previously called spindle cell/pleomorphic malignant fibrous histiocytoma). These neoplasms show, characteristically, gains and losses of numerous chromosomes or chromosome regions, as well as amplifications. Many of them share recurrent aberrations (e.g., gain of 5p13-p15) that seem to play a significant role in tumor progression and/or metastatic dissemination. In this paper, we review the cytogenetic, molecular genetic, and clinicopathologic characteristics of the most common STS displaying complex genomic profiles. Features of diagnostic or prognostic relevance will be discussed when needed.

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“…Conventional and array CGH studies have shown the amplification of 3p11-12 (61,65). Notably, Hallor et al (61) demonstrated that 3p11-12 amplification is associated with an increased expression of VGLL3 and CHMP2B.…”

Section: Intermediate Soft Tissue Tumorsmentioning

confidence: 99%

Updates on the cytogenetics and molecular cytogenetics of benign and intermediate soft tissue tumors

Nishio

2012

Oncology Letters

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Myxoinflammatory fibroblastic sarcoma: investigations by comparative genomic hybridization of two cases and review of the literature

Cited by 24 publications

References 15 publications

Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors

Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors

Soft tissue sarcomas with complex genomic profiles

Updates on the cytogenetics and molecular cytogenetics of benign and intermediate soft tissue tumors

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