Sigauke E, Rakheja D, Maddox DL, et al.. 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

Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9073, USA.
Modern Pathology (Impact Factor: 6.19). 06/2006; 19(5):717-25. DOI: 10.1038/modpathol.3800581
Source: PubMed


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.

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    • "Cytogenic studies have shown that classic rhabdoid tumours contain a characteristic chromosomal abnormality involving chromosome 22, leading to mutation of Hsnf5/INII gene, located on chromosomal band 22q11.2, with lack of expression on INI1 protein at immunohistochemistry [6, 10–14]. Such a way a genetic diagnosis is possible [15]. "
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    ABSTRACT: Few cases of malignant rhabdoid tumour (MRT) of the liver are reported in literature and always in paediatric patients. We report the first two cases of young adults submitted to hepatic resection for MRT of the liver. A major liver resection was performed in both cases. The histology showed round or fusiform, loosely cohesive cells. The cytoplasm contained abundant eosinophilic inclusions, which caused the nuclei to be located in eccentric locations, giving the characteristic rhabdoid appearance. The immunohistochemical study was performed, and characteristic lack of nuclear INI1 protein expression was found. In a case surgery was associated to chemoradiotherapy. One patient died at 48 months followup for tumour recurrence. The other is still alive at 25 months followup. MRTs are rare tumours of pediatric age with poor prognosis. Hypothetical less malignant behaviour in the young adults could be supposed. Therefore an aggressive surgical and oncological treatment seems justified.
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    ABSTRACT: Composite rhabdoid tumors are typically adult tumors that contain a component of rhabdoid cells, which are characteristic of the aggressive childhood malignant rhabdoid tumor. Pediatric rhabdoid tumors are characterized by the inactivation of the hSNF5/INI1/SMARCB1 gene, with subsequent loss of expression of the protein. In contrast, only a single composite rhabdoid tumor has demonstrated involvement of the INI1 gene. In our study, INI1 protein expression was studied in 2 uterine carcinosarcomas with rhabdoid components (composite rhabdoid tumors). The rhabdoid component of 1 tumor showed lack of immunoreactivity for the INI1 protein and strong positivity for cyclin D1, whereas the adenocarcinomatous component of the tumor and both components of the second tumor were immunoreactive for the INI1 protein and negative for cyclin D1. Loss of one INI1 allele and a mutation in exon 7 of the remaining allele were detected in the first tumor, consistent with the immunohistochemistry results. Our results demonstrate that deletions and mutations of the INI1 gene can occur also in rare composite rhabdoid tumors of adulthood. Further studies are necessary, however, to determine the prognostic significance of this finding.
    Preview · Article · Jul 2007 · Human Pathlogy
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