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81例脑膜瘤患者22号染色体的分子遗传学分析

Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.

作者信息

Dumanski J P, Rouleau G A, Nordenskjöld M, Collins V P

机构信息

Ludwig Institute for Cancer Research, Stockholm Branch, Sweden.

出版信息

Cancer Res. 1990 Sep 15;50(18):5863-7.

PMID:2393856
Abstract

Constitutional and tumor tissue genotypes from 81 unrelated patients with meningioma were compared at 25 polymorphic loci (restriction fragments length alleles) on chromosome 22. Thirty tumors (37%) retained the constitutional genotype along chromosome 22, a finding consistent with no detectable aberrations on chromosome 22 as studied. Forty-two tumors (52%) showed loss of one allele at all informative loci consistent with monosomy 22 in the tumor DNA. The remaining 9 tumors (11%) showed retained constitutional heterozygosity in the tumor DNA at one or more centromeric loci and loss of the heterozygosity at other telomeric loci, which is consistent with variable terminal deletions of one chromosome 22q in the tumor DNA. The localization of breakpoints in these 9 cases with deletions suggests that a meningioma locus is localized distal to myoglobin locus, within 22q12.3-qter. The male cases showed a higher percentage of tumors with no detectable aberrations on chromosome 22, a finding which may suggest that tumors of males have preferentially smaller rearrangements on chromosome 22q than those of females or that the male and female cases with no detected aberrations have another mechanism of oncogenesis. In view of the recent findings on the localization of the neurofibromatosis-2 gene on chromosome 22, the data from case 11 of our series suggests that the meningioma and the neurofibromatosis-2 loci are separate entities.

摘要

对81例无关的脑膜瘤患者的体质和肿瘤组织基因型,在22号染色体上的25个多态位点(限制性片段长度等位基因)进行了比较。30个肿瘤(37%)在22号染色体上保留了体质基因型,这一发现与所研究的22号染色体上未检测到畸变一致。42个肿瘤(52%)在所有信息位点均显示一个等位基因缺失,与肿瘤DNA中的22号染色体单体性一致。其余9个肿瘤(11%)在肿瘤DNA中的一个或多个着丝粒位点保留了体质杂合性,而在其他端粒位点杂合性缺失,这与肿瘤DNA中一条22号染色体q臂的可变末端缺失一致。这9例缺失病例中断点的定位表明,一个脑膜瘤位点定位于肌红蛋白位点远端,在22q12.3 - qter范围内。男性病例中22号染色体未检测到畸变的肿瘤比例较高,这一发现可能表明男性肿瘤在22号染色体q臂上的重排比女性肿瘤更小,或者未检测到畸变的男性和女性病例有另一种肿瘤发生机制。鉴于最近关于22号染色体上神经纤维瘤病2型基因定位的研究结果,我们系列病例11的数据表明,脑膜瘤和神经纤维瘤病2型位点是不同的实体。

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