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首页> 外文期刊>British Journal of Haematology >Biological and clinical characterization of recurrent 14q deletions in CLL and other mature B-cell neoplasms.
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Biological and clinical characterization of recurrent 14q deletions in CLL and other mature B-cell neoplasms.

机译：在CLL和其他成熟的B细胞肿瘤中反复出现14q缺失的生物学和临床特征。

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摘要

14q-deletions have been repeatedly described in mature B-cell neoplasms, but not yet characterized in a larger cohort. Based on chromosome banding analysis, the present study identified 47 del(14q) cases in 3054 mature B-cell neoplasms (1.5%) (chronic lymphocytic leukaemia [CLL]: 1.9%; CLL/prolymphocytic leukaemia [PL]: 9.0%; others: 0.2%). Interphase fluorescence in situ hybridization was performed with probes for 14q22.1, 14q24.1, 14q32.33, and IGH@ (14q32.3). The del(14q) had heterogeneous size but showed a breakpoint cluster at the centromeric site in 14q24.1 (62% of cases). At the telomeric side, the most frequent breakpoint was within the IGH@ locus (14q32.3) between IGH@ 3'-flanking and IGHV (IgVH) probes (45%). In 16 cases (34%), breakpoints occurred within 14q24.1 and 14q32.3. Eighty-one percent of del(14q) cases showed 1-3 additional cytogenetic alterations (in 45%, +12), and 56% were IGHV-unmutated. In all cases (16/16) with breakpoints in 14q24.1 and 14q32.3, a B-CLL immunophenotype was found. Clinical follow-up in 32 del(14q) patients was compared to 383 CLL and CLL/PL patients without del(14q). While 3-year-overall survival did not differ significantly, time to treatment was significantly shorter in the del(14q) cohort (21.0 months vs. 80.1 months, P = 0.015). In conclusion, the del(14q) is a rare recurrent alteration in diverse mature B-cell neoplasms, shows variable size but distinct clustering of breakpoints, and is associated with short time to treatment.
机译：14q缺失已在成熟的B细胞肿瘤中反复描述，但尚未以较大的队列为特征。根据染色体谱带分析，本研究确定了3054个成熟B细胞肿瘤中的47 del（14q）病例（1.5％）（慢性淋巴细胞性白血病[CLL]：1.9％; CLL /前淋巴细胞性白血病[PL]：9.0％;其他） ：0.2％）。用14q22.1、14q24.1、14q32.33和IGH @（14q32.3）的探针进行相间荧光原位杂交。 del（14q）的大小不均一，但在14q24.1的着丝粒位点显示了一个断点簇（占病例的62％）。在端粒端，最频繁的断点是在IGH @ 3'侧翼和IGHV（IgVH）探针（45％）之间的IGH @基因座（14q32.3）内。在16个案例中（34％），断点发生在14q24.1和14q32.3之内。在del（14q）病例中，有81％的病例显示出1-3个额外的细胞遗传学改变（分别为45％，+ 12），其中IGHV未突变的占56％。在所有具有14q24.1和14q32.3断点的情况下（16/16），均发现了B-CLL免疫表型。将32例del（14q）患者的临床随访与383例没有del（14q）的CLL和CLL / PL患者进行了比较。尽管3年总生存期无显着差异，但del（14q）队列的治疗时间明显缩短（21.0个月vs. 80.1个月，P = 0.015）。总之，del（14q）是在各种成熟的B细胞肿瘤中罕见的复发性改变，显示大小可变但断点明显聚集，并且治疗时间短。

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