Konstantinova L N, Fleischman E W, Knisch V I, Perevozchikov A G, Kopnin B P
Cytogenetic Laboratory, All-Union Cancer Research Center AMS of the USSR, Moscow.
Hum Genet. 1991 Mar;86(5):491-6. doi: 10.1007/BF00194640.
The data of the chromosome abnormalities in 15 colorectal tumors are presented. Rearrangements of the short arm of chromosome 17, leading to deletions of this arm or its part were noted in 12 tumors; in 2 other cases, one of the homologs of pair 17 was lost. The losses of at least one homolog of other chromosomal pairs were also found: chromosome 18, in 12 out of 13 cases with fully identified numerical abnormalities; chromosome 5, in 6 tumors; chromosome 21, in 5 cases; chromosomes 4, 15, and 22, in 4 cases each. Additional homologs of pair 20 were observed in 6 tumors, extra 8q was found in 5 tumors, and extra 13q in 6 cases. Rearrangements of the short arm of chromosome 1 and the long arm of chromosome 11 characterized 6 tumors each. The data recorded in our series differ from the data of other authors in two respects: the high incidence of the loss of sex chromosomes and the rearrangements of the long arm of chromosome 9. X chromosomes were missing in 4 out of 7 tumors in females, and Y chromosomes were absent in 5 out of 8 tumors in males. The long arm of chromosome 9 was rearranged in 8 cases, in 5 of them the breakpoint being at 9q22. Cytological manifestations of gene amplification (double minutes or multiple microchromosomes) were noted in 6 tumors.
本文呈现了15例结直肠肿瘤的染色体异常数据。12例肿瘤中发现17号染色体短臂重排,导致该臂或其部分缺失;另外2例中,17号染色体同源染色体之一丢失。还发现其他染色体对中至少一条同源染色体缺失:18号染色体,在13例完全确定数字异常的病例中有12例;5号染色体,在6例肿瘤中;21号染色体,在5例中;4号、15号和22号染色体,各有4例。6例肿瘤中观察到20号染色体对的额外同源染色体,5例肿瘤中发现额外的8q,6例中发现额外的13q。1号染色体短臂和11号染色体长臂重排各有6例肿瘤。我们系列中记录的数据在两个方面与其他作者的数据不同:性染色体缺失和9号染色体长臂重排的高发生率。女性7例肿瘤中有4例X染色体缺失,男性8例肿瘤中有5例Y染色体缺失。9号染色体长臂重排在8例中出现,其中5例断点位于9q22。6例肿瘤中观察到基因扩增的细胞学表现(双微体或多个微染色体)。