Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue:: an immunohistochemical study with implications for diagnosis
Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue:: an immunohistochemical study with implications for diagnosis
复制标题
DOI：
10.1038/modpathol.3800581
复制
发表时间：
2006-05-01
期刊：
影响因子：
7.5
通讯作者：
Raisanen, J
中科院分区：
文献类型：
--
作者：
Sigauke, E;Rakheja, D;Raisanen, J
恶性横纹肌样瘤是中枢神经系统(CNS)、肾脏和软组织的高级别肿瘤，常见于儿童。恶性横纹肌样瘤的组织学诊断依赖于特征性横纹肌样细胞的鉴定--大细胞，核偏心，胞浆丰富，嗜酸性--免疫组织化学检测波形蛋白、角蛋白和上皮膜抗原。在大多数恶性横纹肌样肿瘤中，位于染色体22q11.2带的SMARCB1/INI1基因因缺失和/或突变而失活，因此基因诊断通常是可能的。然而，组织可能无法用于遗传分析或未经证实的研究。我们用免疫组织化学方法检测了17例横纹肌样瘤和57例其他中枢神经系统、肾脏或软组织肿瘤中SMARCB1/INI1的表达。共检查了12例脑、3例肾和2例软组织横纹肌肉瘤，包括4例胶质母细胞瘤、4例毛细胞性星形细胞瘤、4例少突胶质瘤、2例室管膜瘤、2例脉络丛乳头状瘤、5例垂体腺瘤、4例生殖细胞瘤、4例肾癌Xp11.2易位、2例透明细胞肉瘤、2例肾母细胞瘤、1例肾髓样癌、2例促结缔组织增生性小圆细胞瘤、2例肺泡横纹肌肉瘤、2例胚胎性横纹肌肉瘤、1例低级别软骨肉瘤、2例骨外粘软骨肉瘤、1例间叶软骨肉瘤、4例恶性周围神经鞘瘤、5例转移性癌和4例上皮样肉瘤、2例原发和2例转移性横纹肌肉瘤。免疫组织化学显示，所有横纹肌样瘤、4例上皮样肉瘤和肾髓样癌的肿瘤细胞均不表达SMARCB1/INI1，其他肿瘤的肿瘤细胞均表达SMARCB1/INI1。免疫组织化学检测SMARCB1/INI1的表达有助于中枢、肾脏和软组织横纹肌样肿瘤的诊断。
Malignant rhabdoid tumors are high-grade neoplasms of the central nervous system (CNS), kidneys and soft tissue that usually occur in children. The histologic diagnosis of malignant rhabdoid tumor depends on identification of characteristic rhabdoid cells-large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm - and immunohistochemistry with antibodies to vimentin, keratin and epithelial membrane antigen. In most malignant rhabdoid tumors, the SMARCB1/INI1 gene, located in chromosome band 22q11.2, is inactivated by deletions and/or mutations, so genetic diagnosis is often possible. However, tissue may not be available for genetic analysis or studies not confirmatory. We assessed SMARCB1/INI1 expression in 17 rhabdoid tumors and 57 other tumors of the CNS, kidney or soft tissue using immunohistochemistry. In total, 12 brain, three renal and two soft tissue rhabdoid tumors were examined along with four glioblastomas, four pilocytic astrocytomas, four oligodendrogliomas, two ependymomas, two choroid plexus papillomas, five pituitary adenomas, four germinomas, four renal carcinomas with Xp11.2 translocations, two clear cell sarcomas, two Wilms' tumors, one renal medullary carcinoma, two desmoplastic small round cell tumors, two alveolar rhabdomyosarcomas, two embryonal rhabdomyosarcomas, one low-grade chondrosarcoma, two extraskeletal myxoid chondrosarcomas, one mesenchymal chondrosarcoma, four malignant peripheral nerve sheath tumors, five metastatic carcinomas and four epithelioid sarcomas, two primary and two metastatic. The neoplastic cells of all rhabdoid tumors, the four epithelioid sarcomas and the renal medullary carcinoma did not express SMARCB1/INI1 by immunohistochemistry; neoplastic cells of all other tumors expressed SMARCB1/INI1. Immunohistochemistry to assess expression of SMARCB1/INI1 may be useful in the diagnosis of rhabdoid tumors of the CNS, kidneys and soft tissue.