Abur Ümmet, Oğur Gönül, Akar Ömer Salih, Altundağ Engin, Aymelek Huri Sema, Özatlı Düzgün, Turgut Mehmet
Ondokuz Mayıs University Faculty of Medicine, Department of Medical Genetics, Samsun, Turkey.
Ondokuz Mayıs University Faculty of Medicine, Department of Hematology, Samsun, Turkey.
Turk J Haematol. 2018 Mar 1;35(1):61-65. doi: 10.4274/tjh.2017.0112. Epub 2017 Nov 13.
This study evaluates the impact of CLLU1 expression and fluorescent in situ hybridization (FISH) analysis of a group of Turkish chronic lymphocytic leukemia (CLL) patients.
A total of 156 CLL patients were analyzed by FISH method; 47 of them were also evaluated for CLLU1 expression. Results were correlated with clinical parameters.
FISH aberrations were found in 62% of patients. These aberrations were del13q14 (67%), trisomy 12 (27%), del11q22 (19%), del17p (8%), and 14q32 rearrangements (20%). Overall del11q22 and del17p were associated with the highest mortality rates, shortest overall survival (OS), and highest need for medication. Homozygous del13q14, 14q32 rearrangements, and higher CLLU1 expression correlated with shorter OS.
Cytogenetics/FISH analysis is still indicated for routine evaluation of CLL. Special consideration is needed for the poor prognostic implications of del11q22, del17p, 14q32 rearrangements, and homozygous del13q14. The impact of CLLU1 expression is not yet clear and it requires more data before becoming routine in genetic testing in CLL patients.
本研究评估一组土耳其慢性淋巴细胞白血病（CLL）患者的CLLU1表达及荧光原位杂交（FISH）分析的影响。
采用FISH方法对156例CLL患者进行分析；其中47例还评估了CLLU1表达。结果与临床参数相关。
62%的患者发现FISH异常。这些异常包括13q14缺失（67%）、三体12（27%）、11q22缺失（19%）、17p缺失（8%）和14q32重排（20%）。总体而言，11q22和17p缺失与最高死亡率、最短总生存期（OS）以及最高用药需求相关。纯合性13q14缺失、14q32重排和较高的CLLU1表达与较短的OS相关。
细胞遗传学/FISH分析仍适用于CLL的常规评估。对于11q22、17p、14q32重排和纯合性13q14缺失的不良预后影响需要特别考虑。CLLU1表达的影响尚不清楚，在成为CLL患者基因检测的常规项目之前还需要更多数据。
