The clinical implications of deletions within chromosome 14q32 in CLL pathogenesis remain unclear. We examined the frequency of 14q32 deletions among CLL cases by karyotype and FISH, categorized the variation using genomic microarray, and assessed the prognostic impact by time-to-first-treatment (TTFT) analysis. A 14q32 abnormality was detected in 35 % (245/698) of cases, with the majority containing a 5′ partial telomeric 14q32 deletion. These deletions within the IGH variable region (35/40) ranged from 236 kb to 1.4 Mb involving FAM30A, ADAM6, LINC00226, and LINC00221. The 214 kb minimum deleted region implicated in CLL pathogenesis encompassed LINC00221. Cases with a 14q32 deletion had a shorter median TTFT compared to cases with a sole deletion/nullisomy 13q, a good prognostic indicator, and longer than cases with a sole deletion of 11q or 17p, conferring an unfavorable prognosis. This investigation underscores the importance of comprehensive testing to apprehend the implications of 14q32 deletions in CLL.

染色体 14q32 内缺失在 CLL 发病机制中的临床意义仍不清楚。我们通过核型和 FISH 检查 CLL 病例中 14q32 缺失的频率，使用基因组微阵列对变异进行分类，并通过首次治疗时间 (TTFT) 分析评估预后影响。在 35% (245/698) 的病例中检测到 14q32 异常，其中大多数含有 5' 部分端粒 14q32 缺失。IGH可变区 (35/40)内的这些缺失范围为 236 kb 到 1.4 Mb，涉及FAM30A、ADAM6、LINC00226和LINC00221。涉及 CLL 发病机制的 214 kb 最小缺失区域包括LINC00221. 与仅有 13q 缺失/无效体的病例相比，14q32 缺失病例的中位 TTFT 较短，这是一个良好的预后指标，并且比仅 11q 或 17p 缺失的病例更长，预后较差。这项调查强调了全面测试的重要性，以了解 CLL 中 14q32 缺失的影响。