Myxoinflammatory fibroblastic sarcoma showing t(2;6)(q31;p21.3) as a sole cytogenetic abnormality

Ida, Cristiane M.; Rolig, Kristen A.; Hulshizer, Rachael L.; Dyke, Daniel L. Van; Randolph, Jamie L.; Jenkins, Robert B.; Nascimento, Antonio G.; Oliveira, André M.

doi:10.1016/j.cancergencyto.2007.05.018

Cited by 31 publications

(8 citation statements)

References 37 publications

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“…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]. A t(2;6)(q31;p21.3) translocation has also been described as a sole cytogenetic abnormality in this tumor type [104]. The breakpoints in the t (1;10) translocation map to TGFBR3 in 1p22 and in or near MGEA5 in 10q24, resulting in transcriptional upregulation of NPM3 and particularly FGF8, two consecutive genes located close to MGEA5 [103].…”

Section: Myxoinflammatory Fibroblastic Sarcoma (Inflammatory Myxohyalmentioning

confidence: 96%

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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Section: Myxoinflammatory Fibroblastic Sarcoma (Inflammatory Myxohyalmentioning

confidence: 96%

Soft tissue sarcomas with complex genomic profiles

2009

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“…Cytogenetic and molecular cytogenetic studies have identified the frequent presence of a balanced or unbalanced t(1;10) (p22;q24) translocation and ring or marker chromosomes secondary to 3p11-12 amplifications. A reciprocal t(2;6) (q31;p21.3) translocation has also been described as the sole anomaly in a single case (59). It is of interest that the t(1;10) translocation has also been identified in three cases of pure HFLT (61,63,64).…”

Section: Intermediate Soft Tissue Tumorsmentioning

confidence: 98%

“…Clonal chromosomal aberrations have been detected by cytogenetic analysis in 10 cases of MIFS and hybrid MIFS/hemosiderotic fibrolipomatous tumor (HFLT) (57)(58)(59)(60)(61)(62)(63). Cytogenetic and molecular cytogenetic studies have identified the frequent presence of a balanced or unbalanced t(1;10) (p22;q24) translocation and ring or marker chromosomes secondary to 3p11-12 amplifications.…”

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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“…A balanced translocation, t (2; 6)(q31; p21.3), has also been described as the sole anomaly in a single case [114]. Most recently, Antonescu et al [115] demonstrated the presence of TGFBR3 (1p22) and MGEA5 (10q24) gene rearrangements by FISH in a subset of MIFS.…”

Section: Myxoinflammatory Fibroblastic Sarcomamentioning

confidence: 99%

Cytogenetics and Molecular Genetics of Myxoid Soft-Tissue Sarcomas

Nishio

Iwasaki

Nabeshima

et al. 2011

Genetics Research International

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Myxoid soft-tissue sarcomas represent a heterogeneous group of mesenchymal tumors characterized by a predominantly myxoid matrix, including myxoid liposarcoma (MLS), low-grade fibromyxoid sarcoma (LGFMS), extraskeletal myxoid chondrosarcoma (EMC), myxofibrosarcoma, myxoinflammatory fibroblastic sarcoma (MIFS), and myxoid dermatofibrosarcoma protuberans (DFSP). Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g., FUS-DDIT3 in MLS, FUS-CREB3L2 in LGFMS, EWSR1-NR4A3 in EMC, and COL1A1-PDGFB in myxoid DFSP). Moreover, recent molecular analysis has demonstrated a translocation t(1; 10)(p22; q24) resulting in transcriptional upregulation of FGF8 and NPM3 in MIFS. Most recently, the presence of TGFBR3 and MGEA5 rearrangements has been identified in a subset of MIFS. These genetic alterations can be utilized as an adjunct in diagnostically challenging cases. In contrast, most myxofibrosarcomas have complex karyotypes lacking specific genetic alterations. This paper focuses on the cytogenetic and molecular genetic findings of myxoid soft-tissue sarcomas as well as their clinicopathological characteristics.

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Myxoinflammatory fibroblastic sarcoma showing t(2;6)(q31;p21.3) as a sole cytogenetic abnormality

Cited by 31 publications

References 37 publications

Soft tissue sarcomas with complex genomic profiles

Soft tissue sarcomas with complex genomic profiles

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

Cytogenetics and Molecular Genetics of Myxoid Soft-Tissue Sarcomas

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