Kumaravel T S, Chendil D, Arif M, Asou H, Bharadwaj T P, Sethuraman S, Susheela M, Raina V, Bhargava M, Pant G S, Tanaka K, Murthy P B, Kamada N
Department of Cancer Cytogenetics, Hiroshima University, Japan.
Int J Hematol. 1996 Jul;64(1):31-7. doi: 10.1016/0925-5710(96)00461-6.
This is the first cytogenetic and molecular genetic study to find any specific genetic abnormalities in Indian patients with chronic lymphocytic leukemia (CLL). Cytogenetic studies on 18 patients indicated that their karyotypes were relatively simple and trisomy 12 was seen on karyotype evolution in one patient. Fluorescence in situ hybridization (FISH) revealed abnormal clones of trisomy 12 in nine cases and RB gene deletion in 14 of the 29 cases analyzed. Three patients had both clones. Immunoglobulin genes were rearranged in all the cases and TCR beta in none of the 18 cases Southern blotted. BCL-1 was rearranged in one case. No rearrangement of BCL-2 gene was seen in any case. Genetic changes in Indian CLL were more similar to Western CLL than to Japanese CLL, even though India is supposed to be a low incidence area. Therefore, factors (such as HLA and other genetic markers) other than these routine parameters must be studied to explain the low incidence of CLL in India.
这是第一项针对印度慢性淋巴细胞白血病（CLL）患者进行的细胞遗传学和分子遗传学研究，旨在寻找任何特定的基因异常。对18例患者的细胞遗传学研究表明，他们的核型相对简单，1例患者在核型演变过程中出现了12号染色体三体。荧光原位杂交（FISH）显示，9例患者存在12号染色体三体异常克隆，在分析的29例患者中有14例存在RB基因缺失。3例患者同时具有这两种克隆。所有病例中免疫球蛋白基因均发生重排，18例经Southern印迹分析的病例中无一例TCRβ发生重排。1例患者BCL-1发生重排。所有病例均未发现BCL-2基因重排。尽管印度被认为是低发病率地区，但印度CLL的基因变化与西方CLL更为相似，而与日本CLL不同。因此，必须研究这些常规参数以外的因素（如HLA和其他基因标记）来解释印度CLL的低发病率。
