Yi Shuhua, Li Heng, Li Zengjun, Xiong Wenjie, Liu Huimin, Liu Wei, Lv Rui, Yu Zhen, Zou Dehui, Xu Yan, An Gang, Qiu Lugui
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 288, Nanjing Road, Heping District, Tianjin, 300020, China.
Int J Hematol. 2017 Sep;106(3):418-425. doi: 10.1007/s12185-017-2240-2. Epub 2017 Apr 24.
Patients with chronic lymphocytic leukemia (CLL) with 13q deletion as the sole cytogenetic abnormality usually have a favorable outcome, but the frequency of the 13q14 deletion and its impact on the outcome of other B-cell chronic lymphoproliferative disorders (BCLPDs) remain unclear. To further characterize this aberration, we investigated the prognostic significance of 13q deletion in 541 patients with BCLPDs. We performed fluorescence in situ hybridization (FISH) studies with 13q locus-specific LSI-D13S25 and LSI-RB1 probes. 52.1% of the patients with CLL harbored 13q deletion, which was significantly higher than that of other BCLPDs (p < 0.001). The size of 13q deletion was heterogeneous in both CLL and other BCLPDs. However, the distribution of cases with different deletion sizes showed no significant difference between the two groups. Whereas 13q deletion was a favorable prognostic factor in CLL, a large deletion of 13q was associated with poor prognosis in terms of time to first therapy (p = 0.020), progression-free survival (p = 0.05) and overall survival (p = 0.002) in BCLPD cases other than CLL. In conclusion, the deletion of 13q varied in size both in CLL and in other BCLPDs and adversely influenced the prognosis of patients with other BCLPDs.
以13q缺失作为唯一细胞遗传学异常的慢性淋巴细胞白血病（CLL）患者通常预后良好，但13q14缺失的频率及其对其他B细胞慢性淋巴细胞增殖性疾病（BCLPDs）预后的影响仍不清楚。为了进一步明确这种畸变，我们研究了541例BCLPDs患者中13q缺失的预后意义。我们使用13q位点特异性LSI-D13S25和LSI-RB1探针进行了荧光原位杂交（FISH）研究。52.1%的CLL患者存在13q缺失，这显著高于其他BCLPDs患者（p < 0.001）。13q缺失的大小在CLL和其他BCLPDs中均存在异质性。然而，不同缺失大小病例的分布在两组之间没有显著差异。虽然13q缺失在CLL中是一个有利的预后因素，但在除CLL之外的BCLPD病例中，13q的大片段缺失与首次治疗时间（p = 0.020）、无进展生存期（p = 0.05）和总生存期（p = 0.002）方面的不良预后相关。总之，13q缺失在CLL和其他BCLPDs中的大小各不相同，并且对其他BCLPDs患者的预后产生不利影响。
