Detection of new specific chromosomal and gene abnormalities in human sarcoma and application of the findings to pathologic diagnosis

点击翻译按钮获取中文摘要

In the present study entitled above, new human cell lines were established from malignant peripheral nerve sheath tumor (MPNST), epithelioid sarcoma, synovial sarcoma, pleomorphic rhabdomyosarcoma (RMS) and malignant gastrrointestinal stromal tumor (GIST). The pleomorphic RMS cell line and GIST cell line seem the first cell line from each tumor, because no establishment of cell line from each sarcoma has been reported. In the GIST cell line, amplification of 3q26-27 and 5p12-15 was detected, although its karyotype was complex and non-specific. Rearrangement of 22q12, in which EWS and NF2 are located, was shown in the epithelioid sarcoma cell line, and 1p36, in which PAX7 is located, was detected in the pleomorphic RMS cell line. In cases of ovarian fibromatous tumors, the higher frequency of tetrasomy 12 was indicated in relation to active proliferation of the tumors. In neuroblastoma, defect of SWI1 was suggested to be a factor of worse prognosis of patients. In osteosarcoma and nuroblastoma, expression of T-cadherin was related to each biological behavior including metastasis. Regarding synovial sarcoma, the binding of a chromatin-remodeling factor, hBRM/hSNF2 alpha to SYT-SSX1 was indicated to play an important role in tumor development of this sarcoma. The first case of renal synovial sarcoma was confirmed by defection of SYT-SSX2 specific for synovial sarcoma. In addition, an antibody to SYT-SSX protein was developed, and using this antibody, SYT-SSX protein was detected from serum in a patient with synovial sarcoma.