Malignant rhabdoid tumor of the kidney: Involvement of chromosome 22
Malignant rhabdoid tumor of the kidney: Involvement of chromosome 22
复制标题
肾脏恶性横纹肌样瘤：22 号染色体受累
作者：
V. Shashi;M. Lovell;C. von Kap‐Herr;P. Waldron;W. Golden
细胞遗传学和分子研究表明，22q的参与是脑恶性横纹肌样肿瘤（MRTs）的非随机发现。我们展示了核型为47、XY、+i(i)（q10）、der(8)t(8;22)（q12;q11.2）、der(22)t(8;22)（q23或q24.l;q11.2）的肾脏MRT。8号染色体和22号染色体的荧光原位杂交（FISH）证实了这种不平衡的反向易位。分子分析显示，在q11.2处BCR区域有22q的部分缺失，这加强了人们对该区域是这些高度恶性肿瘤发生或发展的关键区域的怀疑。在肾脏的mrt中建立非随机的细胞遗传学变化可能对区分这些罕见但通常致命的肿瘤与其他在组织学上模仿它们的肾脏肿瘤有价值。肾和外肾mrt在细胞遗传学和分子异常方面的相似性反驳了外肾mrt仅代表横纹肌样表型而不是真正横纹肌样肿瘤的概念。基因与癌症（1994）。©1994 Wiley‐Liss, Inc。
Cytogenetic and molecular studies have demonstrated that involvement of 22q is a non‐random finding in malignant rhabdoid tumors (MRTs) of the brain. We present an MRT of the kidney with the karyotype 47,XY, +i(I)(q 10), der(8)t(8;22)(q12;q11.2),der(22)t(8;22)(q23 or q24.l;q11.2). This unbalanced reciprocal translocation was confirmed by fluorescence in situ hybridization (FISH) with chromosome‐specific paints for chromosomes 8 and 22. Molecular analysis demonstrated a partial deletion of 22q in the BCR region at q 11.2, strengthening the suspicion that this is a critical region for the initiation or progression of these highly malignant neoplasms. Establishing non‐random cytogenetic changes in MRTs arising from the kidney may be of value in distinguishing these rare, but often fatal tumors from other renal neoplasms that mimick them histologically. The similarity in cytogenetic and molecular abnormalities between renal and extra‐renal MRTs argues against the concept that extra‐renal MRTs are only representative of a rhabdoid phenotype, rather than being true rhabdoid tumors. Genes Chrom Cancer 10:49–54 (1994). © 1994 Wiley‐Liss, Inc.
用于研究肾母细胞瘤染色体变化的 G401 细胞系源自肾脏横纹肌样瘤。
DOI：
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发表时间：
1993
期刊：
The American journal of pathology
影响因子：
--
作者：
Garvin,AJ;Re,GG;Tarnowski,BI;Hazen-Martin,DJ;Sens,DA
通讯作者：
Sens,DA
Wilms 肿瘤中 11p DNA 序列肿瘤特异性丢失的遗传机制。
影响因子：
9.8
作者：
Dao,DD;Schroeder,WT;Chao,LY;Kikuchi,H;Strong,LC;Riccardi,VM;Pathak,S;Nichols,WW;Lewis,WH;Saunders,GF
通讯作者：
Saunders,GF