A rare case of B-cell acute lymphoblastic leukemia with translocation (14;14)(q11.2;q32) involving IGH and CEBPE with review of the literature.

IF 0.6 4区医学 Q4 HEMATOLOGY

Journal of Hematopathology Pub Date : 2025-05-09 DOI:10.1007/s12308-025-00639-5

Christine Sholy, Linnea Banker, Lakshmi R Chelapareddy, Richard D Hammer

引用次数: 0

Abstract

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.

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一例罕见的b细胞急性淋巴细胞白血病伴易位（14;14）（q11.2;q32），涉及IGH和CEBPE并复习文献。

易位（14;14）（q11;q32）与免疫球蛋白重链（IGH）（14q32）和CCAAT增强子结合蛋白（CEBPE）（14q11）相关是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畸变，具有良好的预后。本研究将新病例的遗传谱和预后与先前报道的B-ALL伴t(14;14)（q11;q32）进行了比较。在常规诊断程序的背景下，发现了一例伴有t(14;14)（q11;q32）和IGH-CEBPE融合的B-ALL病例，患者为53岁女性。患者在诱导化疗期间达到完全缓解（CR），并在维持治疗中保持稳定8个月，直到感染并发症消失，无白血病疾病的证据。快速和持续的治疗反应支持了这样一个概念，即伴有IGH和CEBPE的t(14;14)（q11;q32）可能代表了一种新的B-ALL亚群，其预后良好。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Hematopathology HEMATOLOGYPATHOLOGY-PATHOLOGY

CiteScore

0.80

自引率

0.00%

发文量

期刊介绍： The Journal of Hematopathology aims at providing pathologists with a special interest in hematopathology with all the information needed to perform modern pathology in evaluating lymphoid tissues and bone marrow. To this end the journal publishes reviews, editorials, comments, original papers, guidelines and protocols, papers on ancillary techniques, and occasional case reports in the fields of the pathology, molecular biology, and clinical features of diseases of the hematopoietic system. The journal is the unique reference point for all pathologists with an interest in hematopathology. Molecular biologists involved in the expanding field of molecular diagnostics and research on lymphomas and leukemia benefit from the journal, too. Furthermore, the journal is of major interest for hematologists dealing with patients suffering from lymphomas, leukemias, and other diseases. The journal is unique in its true international character. Especially in the field of hematopathology it is clear that there are huge geographical variations in incidence of diseases. This is not only locally relevant, but due to globalization, relevant for all those involved in the management of patients.