SMARCB1/INI1 Protein Expression in Round Cell Soft Tissue Sarcomas Associated With Chromosomal Translocations Involving EWS: A Special Reference to SMARCB1/INI1 Negative Variant Extraskeletal Myxoid Chondrosarcoma

• DOI: 10.1097/pas.0b013e318161781a
• Publication Date: 2009-03-05T21:00:51Z
• Authors: Kenichi Kohashi; Yoshinao Oda; Hidetaka Yamamoto; Sadafumi Tamiya; Yumi Oshiro; Teiyu Izumi; Tomoaki Taguchi; Masazumi Tsuneyoshi
• Keywords: SMARCB1; Myxoid liposarcoma; TFE3; Epithelioid sarcoma

Several previous studies have demonstrated the lack of SMARCB1/INI1 protein expression in only malignant rhabdoid tumor (MRT). sarcoma groups are associated with a tumor-specific translocation involving EWS. Moreover, EWS and genes located on same 22q chromosome. We analyzed status 93 cases sarcomas chromosomal EWS, comprising 52 Ewing's sarcoma/primitive neuroectodermal tumors, 24 extraskeletal myxoid chondrosarcomas (EMCS), 14 clear cell soft tissue, 2 desmoplastic small round 1 myxoid/round liposarcoma. In addition, we detailed gene alteration cases, which lacked its expression. Consequently, 4 EMCS showed no expression, these revealed homozygous deletion frameshift mutation gene, respectively. These histologic findings compatible EMCS, according to most recent WHO classification, but major fusion transcripts were detected. 3 out negative variant disclosed features. Therefore, may be The immunohistochemical result SMARCB1/INI is not an absolute diagnostic criteria for MRT careful evaluation required make precise diagnosis MRT.