Close
Close

Synovial sarcoma

Next generation sequencing in synovial sarcoma reveals novel gene mutations.
Related Articles

Next generation sequencing in synovial sarcoma reveals novel gene mutations.

Oncotarget. 2015 Sep 22;

Authors: Vlenterie M, Hillebrandt-Roeffen MH, Flucke UE, Groenen PJ, Tops BB, Kamping EJ, Pfundt R, de Bruijn DR, Geurts van Kessel AH, van Krieken HJ, van der Graaf WT, Versleijen-Jonkers YM

Abstract
Over 95% of all synovial sarcomas (SS) share a unique translocation, t(X;18), however, they show heterogeneous clinical behavior. We analyzed multiple SS to reveal additional genetic alterations besides the translocation. Twenty-six SS from 22 patients were sequenced for 409 cancer-related genes using the Comprehensive Cancer Panel (Life Technologies, USA) on an Ion Torrent platform. The detected variants were verified by Sanger sequencing and compared to matched normal DNAs. Copy number variation was assessed in six tumors using the Oncoscan array (Affymetrix, USA). In total, eight somatic mutations were detected in eight samples. These mutations have not been reported previously in SS. Two of these, in KRAS and CCND1, represent known oncogenic mutations in other malignancies. Additional mutations were detected in RNF213, SEPT9, KDR, CSMD3, MLH1 and ERBB4. DNA alterations occurred more often in adult tumors. A distinctive loss of 6q was found in a metastatic lesion progressing under pazopanib, but not in the responding lesion. Our results emphasize t(X;18) as a single initiating event in SS and as the main oncogenic driver. Our results also show the occurrence of additional genetic events, mutations or chromosomal aberrations, occurring more frequently in SS with an onset in adults.

PMID: 26415226 [PubMed - as supplied by publisher]

Latest Research