Arif M, Tanaka K, Asou H, Ohno R, Kamada N
Department of Cancer Cytogenetics, Hiroshima University, Japan.
Leukemia. 1995 Nov;9(11):1822-7.
Trisomy 12 and a deletion of chromosome 13 are the most common chromosome abnormalities in patients with B cell chronic lymphocytic leukemia (B-CLL). We determined the frequencies of these abnormalities in Japanese B-CLL patients by FISH in interphase nuclei. Specimens from 42 patients were analyzed using both DNA probes specific to the centromeric region of chromosome 12 and the retinoblastoma (RB) gene. Among 42 patients, eight had trisomy 12 and 12 had the RB gene deletion. We found aberrations of trisomy 12 and the RB gene deletion in a totally different group of patients. This suggested that the trisomy 12 and the RB gene deletion occur in different clones and the presence of which in the same patient may be rare. Furthermore, the frequency of trisomy 12 (19%) found in Japanese B-CLL was lower than that in Western countries (30-35%). On the contrary, the frequency of the RB gene deletion (28.6%) was almost the same as in European B-CLL (30-35%). These results will be helpful in understanding the leukemogenesis of B-CLL.
12号染色体三体和13号染色体缺失是B细胞慢性淋巴细胞白血病（B-CLL）患者中最常见的染色体异常。我们通过间期核荧光原位杂交（FISH）确定了日本B-CLL患者中这些异常的频率。使用针对12号染色体着丝粒区域和视网膜母细胞瘤（RB）基因的DNA探针分析了42例患者的标本。42例患者中，8例有12号染色体三体，12例有RB基因缺失。我们发现12号染色体三体和RB基因缺失出现在完全不同的患者组中。这表明12号染色体三体和RB基因缺失发生在不同的克隆中，且在同一患者中同时存在可能很罕见。此外，日本B-CLL患者中12号染色体三体的频率（19%）低于西方国家（30%-35%）。相反，RB基因缺失的频率（28.6%）与欧洲B-CLL患者（30%-35%）几乎相同。这些结果将有助于理解B-CLL的白血病发生机制。
