Division of Laboratory Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Br J Haematol. 2010 Feb;148(4):544-50. doi: 10.1111/j.1365-2141.2009.07982.x. Epub 2009 Nov 6.
Deletion 13q14 on fluorescence in situ hybridization (FISH) analysis is the most common cytogenetic abnormality in chronic lymphocytic leukaemia (CLL), and is a favourable prognostic biomarker when detected as a sole abnormality. We intensively interrogated clinical outcome in 323 consecutive, untreated CLL patients with isolated 13q- identified within 2 years of diagnosis. We also analyzed outcome in 217 additional patients with deletion 11q22.3 or 17p13.1, or trisomy 12, based on whether these occurred in isolation or in conjunction with 13q-. Patients with a heterozygous 13q- and those with a homozygous deletion had similar time to first treatment (TFT) and overall survival (OS). In contrast, a higher percentage of 13q- nuclei was associated with significantly shorter TFT (P < 0.001). The 5-year untreated rate was 79% for patients with isolated 13q- in < or =65.5% of nuclei compared to 38% among those with 13q- in >65.5% of nuclei (P < 0.001). The percentage of nuclei exhibiting 13q- remained an independent predictor of TFT after controlling for ZAP-70, IGHV, or CD38 (all P < 0.001). Among patients with 13q- plus one other FISH abnormality, concomitant 13q- appeared to attenuate the shorter survival associated with 17p- (P = 0.019). The clinical implications of 13q- in CLL appear more complex than originally appreciated.
荧光原位杂交(FISH)分析中 13q14 的缺失是慢性淋巴细胞白血病(CLL)中最常见的细胞遗传学异常,当仅检测到这一异常时,它是一个有利的预后生物标志物。我们在 323 例连续未经治疗的 CLL 患者中深入研究了临床结局,这些患者在诊断后 2 年内均被发现存在孤立的 13q-。我们还分析了另外 217 例存在 11q22.3 或 17p13.1 缺失或 12 三体的患者的结局,这些患者的这些异常是孤立存在还是与 13q-同时存在。杂合性 13q-患者和纯合性缺失患者的首次治疗时间(TFT)和总生存(OS)相似。相比之下,更多的 13q-核与 TFT 显著缩短相关(P < 0.001)。在核中孤立的 13q-<=65.5%的患者中,5 年未治疗率为 79%,而核中 13q->65.5%的患者中,5 年未治疗率为 38%(P < 0.001)。在控制 ZAP-70、IGHV 或 CD38 后,核中 13q-的百分比仍然是 TFT 的独立预测因子(均 P < 0.001)。在 13q-伴发一种以上 FISH 异常的患者中,同时存在 13q-似乎减轻了与 17p-相关的较短生存(P = 0.019)。13q-在 CLL 中的临床意义比最初认为的要复杂。