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How Many Tests Does It Take to Diagnose a Triple-Hit B-Lymphoblastic Lymphoma? (Hint, It's A Lot).
Pediatric and Developmental Pathology ( IF 1.9 ) Pub Date : 2023-11-30 , DOI: 10.1177/10935266231212337
Marie Das 1 , Karen D Tsuchiya 1, 2, 3 , Sandra D Bohling 1, 2 , Billy Davis 2, 4 , Samuel Hwang 2, 5 , Rebecca A Gardner 6, 7 , Karen M Chisholm 1, 2
Affiliation  

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.

中文翻译:

诊断三重打击 B 淋巴母细胞淋巴瘤需要进行多少次检查?(提示,很多)。

B 淋巴细胞白血病/淋巴瘤 (B-ALL/LBL) 是一种前体 B 细胞肿瘤,通常具有特定的细胞遗传学/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,我们介绍了一名被诊断患有 B-LBL 的 17 岁年轻女性的病例,该女性不仅携带 IGH::MYC 重排,还携带 BCL2 和 BCL6 重排(所谓的“三重打击”)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,多模式方法可以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。
更新日期:2023-11-30
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