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.
Kohashi, Kenichi MD *; Oda, Yoshinao MD, PhD *; Yamamoto, Hidetaka MD, PhD *; Tamiya, Sadafumi MD, PhD *; Oshiro, Yumi MD, PhD +; Izumi, Teiyu MD, PhD *; Taguchi, Tomoaki MD, PhD ++; Tsuneyoshi, Masazumi MD, PhD *
American Journal of Surgical Pathology.
32(8):1168-1174, August 2008.
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Several previous studies have demonstrated the lack of SMARCB1/INI1 protein expression in only the malignant rhabdoid tumor (MRT). Several sarcoma groups are associated with a tumor-specific translocation involving EWS. Moreover, the EWS and SMARCB1/INI1 genes are located on the same 22q chromosome. We analyzed the status of SMARCB1/INI1 protein expression in 93 cases of sarcomas associated with chromosomal translocation involving EWS, comprising 52 Ewing's sarcoma/primitive neuroectodermal tumors, 24 extraskeletal myxoid chondrosarcomas (EMCS), 14 clear cell sarcomas of soft tissue, 2 desmoplastic small round cell tumors, and 1 myxoid/round cell liposarcoma. In addition, we analyzed the detailed SMARCB1/INI1 gene alteration in cases, which lacked its protein expression. Consequently, 4 EMCS showed no SMARCB1/INI1 expression, and 2 of these 4 cases revealed homozygous deletion and frameshift mutation of the SMARCB1/INI1 gene, respectively. These cases showed histologic findings compatible with EMCS, according to the most recent WHO classification, but no major fusion gene transcripts were detected. Moreover, 3 out of 4 SMARCB1/INI1 negative variant EMCS disclosed rhabdoid features. Therefore, the lack of SMARCB1/INI1 protein expression may be associated with rhabdoid features. The immunohistochemical result of the SMARCB1/INI expression is not an absolute diagnostic criteria for MRT and careful histologic evaluation is required to make a precise diagnosis of MRT.
(C) 2008 Lippincott Williams & Wilkins, Inc.