Fuller C E, Pfeifer J, Humphrey P, Bruch L A, Dehner L P, Perry A
Division of Neuropathology, Department of Pathology and Immunology, Barnes-Jewish and St Louis Children's Hospitals, Washington University Medical Center, St Louis, MO 63110, USA.
Hum Pathol. 2001 Oct;32(10):1102-8. doi: 10.1053/hupa.2001.28252.
Composite extrarenal rhabdoid tumors (CERTs) represent a diverse group of neoplasms with rhabdoid shape in combination with one of several distinctive tumor types. Like the classic renal and extrarenal malignant rhabdoid tumor (MRT), as well as the atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system, CERTs typically show aggressive clinical behavior. Deletions and mutations of the INII gene on 22q11.2 have been identified in most classic MRTs and AT/RTs; however, it is not known whether the rhabdoid components in CERTs have similar genetic abnormalities. Using fluorescence in situ hybridization (FISH) on archival, paraffin-embedded tissue with a commercially available probe in close proximity to the INII locus (bcr), as well as other chromosome 22 probes, we studied 4 cases of MRT, 13 of AT/RT, and 16 of CERT (3 melanoma, 4 meningioma, 7 carcinoma, 1 rhabdomyosarcoma, and 1 neuroblastoma). Deletion of the 22q11.2 locus was demonstrated in 10 (77%) of 13 AT/RTs and 3 (75%) of 4 MRT, including 1 congenital MRT. Of the 16 CERTs, only 2 (a rhabdoid meningioma and a carcinoma with rhabdoid features; 13%) harbored a deletion at this locus. This difference was statistically significant (P <.001). We conclude that deletion of 22q11.2, typical of most classic MRTs and AT/RTs, is infrequently seen in CERTs. This suggests that the rhabdoid component of CERTs does not evolve by way of the genetic alteration characteristic of MRTs or AT/RTs, but represents instead a distinct phenotype shared by a number of tumors as they undergo anaplastic progression.
复合性肾外横纹肌样瘤（CERTs）是一组形态多样的肿瘤，其具有横纹肌样形态，并与几种独特的肿瘤类型之一相关。与经典的肾和肾外恶性横纹肌样瘤（MRT）以及中枢神经系统的非典型畸胎样/横纹肌样瘤（AT/RT）一样，CERTs通常表现出侵袭性的临床行为。在大多数经典MRT和AT/RT中已鉴定出22q11.2上的INI1基因缺失和突变；然而，尚不清楚CERTs中的横纹肌样成分是否具有类似的基因异常。我们使用市售探针在存档的石蜡包埋组织上进行荧光原位杂交（FISH），该探针靠近INI1基因座（bcr）以及其他22号染色体探针，研究了4例MRT、13例AT/RT和16例CERT（3例黑色素瘤、4例脑膜瘤、7例癌、1例横纹肌肉瘤和1例神经母细胞瘤）。在13例AT/RT中的10例（77%）和4例MRT中的3例（75%），包括1例先天性MRT中，证实存在22q11.2基因座缺失。在16例CERTs中，只有2例（1例横纹肌样脑膜瘤和1例具有横纹肌样特征的癌；13%）在该基因座存在缺失。这种差异具有统计学意义（P<.001）。我们得出结论，22q11.2缺失在大多数经典MRT和AT/RT中很常见，但在CERTs中很少见。这表明CERTs的横纹肌样成分并非通过MRT或AT/RT特有的基因改变方式演变而来，而是代表了许多肿瘤在间变进展过程中共享的一种独特表型。
