Xu Wei, Li Jian-yong, Li Li, Yu Hui, Shen Qiu-dan, Fan Lei, Qiao Chun, Hong Ming, Qian Si-xuan, Qiu Hong-xia
Department of Hematology, First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing 210029, China.
Zhonghua Yi Xue Za Zhi. 2008 Sep 23;88(36):2537-40.
To explore the characteristics and prognostic significance of molecular cytogenetic aberrations in Chinese patients with chronic lymphocytic leukemia (CLL) and the significance thereof in diagnosis of CLL.
A panel of probes (LSI D13S319, LSI p53, LSI ATM, CEP 12, LSI MYB, and LSI IGHC/IGHV) and interphase fluorescence in situ hybridization (FISH) were used to prospectively detect the cytogenetic abnormalities in 106 CLL patients, 82 males and 24 females, aged 62 (34 - 86).
Molecular cytogenetic aberrations were found in 79 of the 106 CLL patients (74.5%) and 35 patients (33.0%) showed more than two kinds of abnormalities. The most frequent abnormality detected was del (13q14) in 48 cases (45.3%), followed by trisomy of chromosome 12 in 27 patients (25.5%), IgH translocation in 25 patients (23.6%), del (17p13) in 17 patients (16.0%), del (11q22) in 11 patients (10.5%) and del (6q23) in 5 patients (4.7%). The Del (13q14) rate of the group younger than 60 was 56.5%, significantly higher than that of the group aged > or = 60 (36.7%, P = 0.033). There was no significant relationship between molecular cytogenetic aberrations and sex and Binet stages (both P > 0.05). Kaplan-Meier survival analysis showed that the survival time was shorter in the patients with p53 or ATM gene deletion. Patients with sole Del (13q14) had longer survival time than those with other abnormalities.
The frequencies of the chromosomal abnormalities in Chinese CLL patients are similar to those in Western countries. Panel FISH has greatly increased the sensitivity of cytogenetic analyses. Del (13q14) is the most frequent abnormality in CLL. Molecular cytogenetic aberrations detected with FISH have important prognostic significance in CLL.
探讨中国慢性淋巴细胞白血病（CLL）患者分子细胞遗传学异常的特征、预后意义及其在CLL诊断中的意义。
采用一组探针（LSI D13S319、LSI p53、LSI ATM、CEP 12、LSI MYB和LSI IGHC/IGHV）及间期荧光原位杂交（FISH）技术，对106例CLL患者（男82例，女24例，年龄62岁（34 - 86岁））的细胞遗传学异常进行前瞻性检测。
106例CLL患者中，79例（74.5%）存在分子细胞遗传学异常，35例（33.0%）表现出两种以上异常。最常见的异常为48例（45.3%）的del（13q14），其次为27例（25.5%）的12号染色体三体、25例（23.6%）的IgH易位、17例（16.0%）的del（17p13）、11例（10.5%）的del（11q22）和5例（4.7%）的del（6q23）。年龄小于60岁组的Del（13q14）发生率为56.5%，显著高于年龄≥60岁组（36.7%，P = 0.033）。分子细胞遗传学异常与性别及Binet分期均无显著相关性（P均> 0.05）。Kaplan-Meier生存分析显示，p53或ATM基因缺失的患者生存时间较短。单纯Del（13q14）的患者比其他异常患者生存时间更长。
中国CLL患者染色体异常的频率与西方国家相似。FISH检测极大地提高了细胞遗传学分析的敏感性。Del（13q14）是CLL中最常见的异常。FISH检测到的分子细胞遗传学异常在CLL中具有重要的预后意义。
