Ritland S R, Ganju V, Jenkins R B
Department of Pathology and Laboratory Medicine, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA.
Genes Chromosomes Cancer. 1995 Apr;12(4):277-82. doi: 10.1002/gcc.2870120407.
Allelic mutation on chromosome 19 has previously been reported as a frequent genetic event in human glial tumors. In an effort to localize specific regions of importance on this chromosome better, 13 highly polymorphic genetic markers distributed along the length of chromosome 19 were used for evaluation of loss of heterozygosity (LOH) and microsatellite instability in a total of 100 brain tumors, including 75 astrocytomas (55 grade 4; 7 grade 3; 5 grade 2; 6 grade 1; and 2 other), 17 oligodendrogliomas (1 grade 4; 5 grade 3; 10 grade 2; and 1 grade 1), and 8 mixed oligoastrocytomas (MOA) (3 grade 4; 2 grade 3; and 3 grade 2). No microsatellite expansion was observed in these glial tumors for any of the chromosome 19 loci examined. LOH for loci on chromosome 19 was detected in 23/74 informative astrocytomas (31%), 11/17 oligodendrogliomas (65%), and 3/8 MOA (38%). Partial deletion of chromosome 19 occurred more frequently (31/37 cases) than did loss of one whole copy of the chromosome, and a morphology-specific pattern of LOH was observed. In 12/14 (86%) instances of chromosome 19 deletion in oligodendrogliomas and MOA, the 19q arm showed LOH, whereas the 19p arm showed no loss for all informative loci. Conversely, in 17/23 (74%) instances of chromosome 19 deletion in astrocytomas, the 19p arm showed LOH, whereas the 19q arm showed no loss for one or more loci. Thus, loss of 19q and retention of 19p are strongly associated with oligodendroglioma and MOA, whereas loss of 19p and retention of distal 19q is associated with astrocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)
19号染色体上的等位基因突变先前已被报道为人类胶质肿瘤中常见的遗传事件。为了更好地定位该染色体上的重要特定区域，沿着19号染色体长度分布的13个高度多态性遗传标记被用于评估总共100例脑肿瘤中的杂合性缺失（LOH）和微卫星不稳定性，其中包括75例星形细胞瘤（55例4级；7例3级；5例2级；6例1级；以及2例其他类型）、17例少突胶质细胞瘤（1例4级；5例3级；10例2级；以及1例1级）和8例混合性少突星形细胞瘤（MOA）（3例4级；2例3级；以及3例2级）。在所检测的19号染色体的任何位点上，这些胶质肿瘤中均未观察到微卫星扩增。在74例信息丰富的星形细胞瘤中有23例（31%）检测到19号染色体位点的LOH，17例少突胶质细胞瘤中有11例（65%），8例MOA中有3例（38%）。19号染色体的部分缺失比整条染色体的缺失更频繁地发生（31/37例），并且观察到一种形态学特异性的LOH模式。在少突胶质细胞瘤和MOA中19号染色体缺失的12/14例（86%）中，19q臂显示LOH，而对于所有信息丰富的位点，19p臂未显示缺失。相反，在星形细胞瘤中19号染色体缺失的17/23例（74%）中，19p臂显示LOH，而19q臂对于一个或多个位点未显示缺失。因此，19q的缺失和19p的保留与少突胶质细胞瘤和MOA密切相关，而19p的缺失和19q远端部分的保留与星形细胞瘤相关。（摘要截短于250字）
