诊断三打b淋巴母细胞淋巴瘤需要多少次检查?(提示,这是很多)。

IF 1.3 4区 医学 Q3 PATHOLOGY
Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-11-30 DOI:10.1177/10935266231212337
Marie Das, Karen D Tsuchiya, Sandra D Bohling, Billy Davis, Samuel Hwang, Rebecca A Gardner, Karen M Chisholm
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引用次数: 0

摘要

b淋巴母细胞白血病/淋巴瘤(B-ALL/LBL)是一种前体b细胞肿瘤,通常具有特殊的细胞遗传学/分子异常,具有独特的临床、表型和预后特征。因此,B-ALL/LBL的亚分类需要广泛的细胞遗传学和/或分子检测,以确定这些患者的适当分类和治疗干预措施。在此,我们报告了一例17岁的年轻女性诊断为B-LBL,不仅有IGH::MYC重排,还有BCL2和BCL6重排(所谓的“三击”)和体细胞双等位基因TP53失活。MYC重排在B-ALL/LBL中相对罕见,“三重打击”的识别引发了最初的诊断困境。然而,多模式方法允许对这种复杂病例进行分类,并有助于指导选择适当的治疗方案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
How Many Tests Does It Take to Diagnose a Triple-Hit B-Lymphoblastic Lymphoma? (Hint, It's A Lot).

B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is a precursor B-cell neoplasm that often harbors specific cytogenetic/molecular abnormalities with distinctive clinical, phenotypic, and prognostic characteristics. Subcategorization of B-ALL/LBL therefore requires extensive cytogenetic and/or molecular testing to determine the appropriate classification and therapeutic interventions for these patients. Herein, we present a case of a 17-year-old young woman diagnosed with B-LBL harboring not only an IGH::MYC rearrangement but also BCL2 and BCL6 rearrangements (so-called "triple-hit") and somatic biallelic TP53 inactivation. MYC rearrangements are relatively rare in B-ALL/LBL, and the identification of a "triple-hit" elicited an initial diagnostic dilemma. However, a multimodal approach allowed for the classification of this complex case and helped guide selection of an appropriate therapeutic regimen.

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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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