Cytogenetic features have an important role in the definition of distinct disease subsets in CLL. The deletion of 6q is known to occur at a relatively low frequency in CLL, and the detailed analysis of hematologic and clinical features of patients with CLL with 6q deletion is limited. To verify the incidence and prognostic significance of 6q deletion in Chinese patients with CLL, fluorescence in situ hybridization (FISH) was used in 240 patients with CLL. del(6q23) was found in 18 patients (7.5%%), and only five patients had deletion in 6q23 as the sole abnormality. Strong correlations between del(6q23) and clinical parameters were not found. A difference in terms of survival in patients with del(6q23) as compared with patients without this anomaly was not able to be demonstrated. However, a significant difference was found when comparing the del(6q23) group with the del(17p13) or del(11q22.3) group (p aEuroS== aEuroS0.023), or isolated del(13q14) group (p aEuroS== aEuroS0.019). Our findings place the del(6q23) cytogenetic subset of CLL in an intermediate prognosis position between patients with del(11q22.3) or del(17p13), and patients with isolated del(13q14). FISH probes to detect deletions of 6q might be useful in clinical practice in the work-up of patients with CLL.
细胞遗传学特征在慢性淋巴细胞白血病(CLL)不同疾病亚型的定义中具有重要作用。已知6q缺失在CLL中的发生频率相对较低,对伴有6q缺失的CLL患者血液学和临床特征的详细分析也有限。为了验证6q缺失在中国CLL患者中的发生率及其预后意义,我们对240例CLL患者使用了荧光原位杂交(FISH)技术。在18例患者(7.5%)中发现了del(6q23),且仅有5例患者6q23缺失是唯一的异常。未发现del(6q23)与临床参数之间存在强相关性。无法证明del(6q23)患者与无此异常的患者在生存率方面存在差异。然而,当将del(6q23)组与del(17p13)或del(11q22.3)组(p = 0.023),或孤立的del(13q14)组(p = 0.019)进行比较时,发现存在显著差异。我们的研究结果表明,CLL的del(6q23)细胞遗传学亚型的预后介于del(11q22.3)或del(17p13)患者与孤立的del(13q14)患者之间。用于检测6q缺失的FISH探针在CLL患者的临床检查中可能有用。