Sholy Christine, Banker Linnea, Chelapareddy Lakshmi R, Hammer Richard D
University of Missouri Hospital, Columbia, United States.
University of Missouri Health System, Columbia, United States.
J Hematop. 2025 May 9;18(1):23. doi: 10.1007/s12308-025-00639-5.
Translocation (14;14)(q11;q32) with immunoglobulin heavy chain (IGH) (14q32) and CCAAT enhancer-binding protein (CEBPE) (14q11) involvement is a rare cytogenetic aberration in B-cell acute lymphoblastic leukemia/lymphoma (B-ALL) associated with a favorable prognosis. This study compares the genetic profile and outcome of a new case with previously reported cases of B-ALL with t(14;14)(q11;q32). In the context of routine diagnostic procedure, a case of B-ALL with t(14;14)(q11;q32) and IGH-CEBPE fusion was identified in a 53-year-old female. The patient achieved complete remission (CR) during induction chemotherapy and remained stable on maintenance therapy for 8 months before passing away from infectious complications, without evidence of leukemic disease. The rapid and sustained treatment response supports the concept that t(14;14)(q11;q32) with IGH and CEBPE involvement may represent a novel B-ALL subgroup distinguished by a favorable prognosis.
伴有免疫球蛋白重链（IGH）（14q32）和CCAAT增强子结合蛋白（CEBPE）（14q11）受累的易位（14；14）（q11；q32）是B细胞急性淋巴细胞白血病/淋巴瘤（B-ALL）中一种罕见的细胞遗传学异常，与良好的预后相关。本研究比较了1例新病例与先前报道的伴有t（14；14）（q11；q32）的B-ALL病例的基因特征和预后。在常规诊断过程中，在一名53岁女性中发现了1例伴有t（14；14）（q11；q32）和IGH-CEBPE融合的B-ALL病例。患者在诱导化疗期间实现完全缓解（CR），在维持治疗8个月期间病情稳定，之后死于感染并发症，无白血病证据。快速且持续的治疗反应支持这样的概念，即伴有IGH和CEBPE受累的t（14；14）（q11；q32）可能代表一个以良好预后为特征的新型B-ALL亚组。
