慢性淋巴细胞白血病 14 号染色体长臂 24 区末端缺失（del(14)(q24)）是预后分层的新标志物吗？

Chronic lymphocytic leukaemia Is terminal del(14)(q24) a new marker for prognostic stratification?

作者信息

La Starza Roberta, Barba Gianluca, Matteucci Caterina, Crescenzi Barbara, Romoli Silvia, Pierini Valentina, Beacci Donatella, Cantaffa Renato, Martelli Massimo F, Mecucci Cristina

机构信息

Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.

出版信息

Leuk Res. 2006 Dec;30(12):1569-72. doi: 10.1016/j.leukres.2006.03.019. Epub 2006 May 2.

DOI:10.1016/j.leukres.2006.03.019

PMID:16650893

Abstract

In a patient with chronic lymphocytic leukemia (CLL) molecular cytogenetics showed terminal del(14)(q24). Fluorescence in situ hybridisation (FISH) narrowed the deletion to a 35 megabases DNA segment, with the proximal breakpoint between two partially overlapping clones, RP1-116J24 and RP5-1119N5. Besides loss of material at 14q24-qter, comparative genomic hybridisation (CGH) showed loss of 3p21.3-pter, 4p11-p15.1, 8p12-pter, 13q12-q14, and 15q11-q15, and gain of 3q25-qter. Del(13)(q12-14) included the RB-1 gene but not D13S319 and D13S25 loci. The patient was refractory to fludarabine and rituximab. Our findings and data from other reports suggest del(14)(q24) is indicative of aggressive course and is closely associated with del(13)(q14) in CLL.

摘要

在一名慢性淋巴细胞白血病（CLL）患者中，分子细胞遗传学显示存在末端del(14)(q24)。荧光原位杂交（FISH）将缺失范围缩小至一个35兆碱基的DNA片段，近端断点位于两个部分重叠的克隆RP1-116J24和RP5-1119N5之间。除了14q24-qter区域的物质缺失外，比较基因组杂交（CGH）显示3p21.3-pter、4p11-p15.1、8p12-pter、13q12-q14和15q11-q15区域缺失，以及3q25-qter区域增益。Del(13)(q12-14)包含RB-1基因，但不包括D13S319和D13S25位点。该患者对氟达拉滨和利妥昔单抗耐药。我们的研究结果以及其他报告的数据表明，del(14)(q24)提示病程侵袭性，且与CLL中的del(13)(q14)密切相关。