Navarro B, García-Marco J A, Jones D, Price C M, Catovsky D
Academic Department of Haematology and Cytogenetics, Royal Marsden Hospital, London.
Br J Haematol. 1998 Sep;102(5):1330-4. doi: 10.1046/j.1365-2141.1998.00891.x.
The coexistence of trisomy 12 and deletions of chromosome 13 (13q12-q32) has rarely been observed in chronic lymphocytic leukaemia (CLL). Fluorescence in situ hybridization (FISH) performed on 600 consecutive CLL patients revealed the association of trisomy 12 and 13q14 deletion, of at least one of the three markers analysed (RB1, D13S319 and D13S25), in 55 cases (9% of 600 and 46% of 120 trisomy 12 cases). Trisomy 12 and isolated RB1 deletion were seen in 14/120 cases, trisomy 12 and D13S319/D13S25 deletion with diploid RB1 in 19/118, and trisomy 12 and deletion encompassing the three 13q markers studied in 22/118 cases. The heterogenous distribution of trisomy 12 and 13q deletions within the neoplastic B cells suggests that they are secondary rather than primary events in CLL leukaemogenesis.
在慢性淋巴细胞白血病（CLL）中，很少观察到12号染色体三体与13号染色体缺失（13q12 - q32）并存的情况。对600例连续的CLL患者进行荧光原位杂交（FISH）检测发现，在55例患者中（占600例的9%，占120例12号染色体三体病例的46%），12号染色体三体与13q14缺失（在所分析的三个标志物RB1、D13S319和D13S25中至少有一个缺失）存在关联。在120例病例中有14例出现12号染色体三体和孤立的RB1缺失，在118例中有19例出现12号染色体三体以及D13S319/D13S25缺失且RB1为二倍体，在118例中有22例出现12号染色体三体以及包含所研究的三个13q标志物的缺失。12号染色体三体和13q缺失在肿瘤性B细胞内的异质性分布表明，它们在CLL白血病发生过程中是继发事件而非原发事件。
