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

在上述研究中，从恶性周围神经鞘瘤（MPNST）、上皮样肉瘤、滑膜肉瘤、多形性横纹肌肉瘤（RMS）和恶性胃肠道间质瘤（GIST）中建立了新的人类细胞系。多形性的RMS细胞系和GIST细胞系似乎是每一种肿瘤的第一个细胞系，因为没有从每一种肉瘤中建立细胞系的报道。在GIST细胞系中，检测到3q26-27和5p12-15的扩增，尽管其核型复杂且非特异性。上皮样肉瘤细胞系中发现EWS和NF2所在的22q12重排，多形性RMS细胞系中发现PAX7所在的1p36重排。在卵巢纤维瘤的病例中，高频率的12四体被认为与肿瘤的活跃增殖有关。在神经母细胞瘤中，SWI1的缺陷被认为是患者预后较差的一个因素。在骨肉瘤和神经母细胞瘤中，t -钙粘蛋白的表达与包括转移在内的各种生物学行为有关。对于滑膜肉瘤，一种染色质重塑因子hBRM/hSNF2 α与SYT-SSX1的结合被证明在该肉瘤的肿瘤发展中起重要作用。首例肾滑膜肉瘤经滑膜肉瘤特异性SYT-SSX2缺失证实。此外，我们开发了一种SYT-SSX蛋白的抗体，并利用该抗体从滑膜肉瘤患者的血清中检测到SYT-SSX蛋白。

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.