非典型畸胎样横纹肌瘤
SMARCB1型
生物
病理
外显子
荧光原位杂交
抑癌基因
22号染色体
突变
生殖细胞肿瘤
癌症研究
染色体
基因
髓母细胞瘤
医学
遗传学
癌变
表观遗传学
染色质重塑
化疗
作者
Jaclyn A. Biegel,Lu Tan,Fan Zhang,Luanne M. Wainwright,Pierre Russo,Lucy B. Rorke
出处
期刊:PubMed
日期:2002-11-01
卷期号:8 (11): 3461-7
被引量:106
摘要
Germ-line and acquired mutations of the hSNF5/INI1 tumor suppressor gene have been reported in central nervous system (CNS), renal, and soft-tissue rhabdoid tumors. The present study was designed to compare the types of INI1 alterations among tumors from diverse anatomical sites and identify mutation hot spots. Fluorescence in situ hybridization and PCR-based microsatellite, heteroduplex, and sequence analysis were used to characterize chromosome 22 deletions and INI1 mutations among 100 primary rhabdoid tumors. Deletions and/or mutations of INI1 were detected in 75 patients, including 42 children with atypical teratoid/rhabdoid tumors of the brain or spinal cord and 6 children with a brain and a renal or soft-tissue tumor. Nineteen tumors arose in the kidney (in one child, bilaterally) and eight tumors were extra-renal. Homozygous deletions detected by fluorescence in situ hybridization were most often seen in CNS and extra-renal rhabdoid tumors, whereas truncating mutations were detected in a high percentage of CNS and kidney tumors. The highest frequencies of INI1 mutations for kidney tumors were seen in exons 2, 6, and 7, compared with exons 5 and 9 for CNS tumors. Two potential hot-spot mutations for CNS atypical teratoid/rhabdoid tumors were noted, including a C-to-T transition in codon 201 in exon 5 and a cytosine deletion in exon 9. Germ-line mutations were noted in 10 children, including 4 patients with two primary tumors. The majority of rhabdoid tumors from all sites contained deletions and/or mutations of the INI1 gene. Specific mutations were nonrandomly associated with anatomical site.
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