Cytogenetics and molecular genetics of myxoid soft-tissue sarcomas.

Genetics Research International
Jun NishioMasatoshi Naito

Abstract

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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Citations

Feb 16, 2013·Clinics in Chest Medicine·Christopher T ErbAnthony W Kim
Nov 6, 2013·Genes, Chromosomes & Cancer·Christine G JosephNickolas Papadopoulos
Jun 17, 2016·Pathology·Shashikant C U PatneSanjeev Kumar Gupta
Dec 31, 2014·Journal of Medical Case Reports·Giovanni Dell'Aversana OrabonaLuigi Califano
May 24, 2018·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Klaus W FagerstedtLeif C Andersson
Jul 4, 2012·World Journal of Surgical Oncology·Jun Nishio, Masatoshi Naito
Jun 16, 2017·Stomatologii︠a︡·E G MatyakinSh R Gvetadze

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Methods Mentioned

BETA
biopsies
PCR

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