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Childhood and Adolescent Relapsed/Refractory Aggressive B-Cell Lymphomas With t(8;14) and BCL2 Expression, Burkitt Lymphoma Versus Diffuse Large B-Cell Lymphoma: A Diagnostic Challenge
Pediatric and Developmental Pathology ( IF 1.9 ) Pub Date : 2024-03-12 , DOI: 10.1177/10935266241230600
Fouad El Dana 1 , Sofia Alexandra Garces Narvaez 2 , Nader K. El-Mallawany 3 , Jennifer E. Agrusa 3, 4 , ZoAnn E. Dreyer 3 , Andrea N. Marcogliese 1, 3 , Mohamed Tarek Elghetany 1, 3 , Jyotinder N. Punia 1 , Chi Young Ok 2 , Keyur P. Patel 2 , Dolores H. Lopez-Terrada 1, 3 , Kevin E. Fisher 1 , Choladda V. Curry 1
Affiliation  

We present 2 diagnostically challenging cases of pediatric/adolescent relapsed/refractory aggressive mature B-cell non-Hodgkin lymphoma (B-NHL) within the spectrum of Burkitt lymphoma and diffuse large B-cell lymphoma and illustrate the different therapeutic regimens that are employed for pediatric and adult cancer centers. Both cases displayed varying-sized lymphoma cells with occasional single prominent nucleoli and heterogeneous BCL2 expression. Cytogenetics revealed complex karyotypes with t(8:14)(q24.2;q32) and IGH::MYC rearrangement by FISH. Next generation sequencing revealed deleterious TP53 and MYC mutations. We concluded that both could be diagnosed as “DLBCL-NOS with MYC rearrangement” using the current pathologic classifications, 2022 International Consensus Classification (ICC) and World Health Organization Classifications of Haematolymphoid Tumors (WHO-HAEM5). This report illustrates diagnostic challenges and treatment dilemmas that may be encountered, particularly for adolescent and young adults (AYA).

中文翻译:

具有 t(8;14) 和 BCL2 表达的儿童和青少年复发/难治性侵袭性 B 细胞淋巴瘤、伯基特淋巴瘤与弥漫性大 B 细胞淋巴瘤:诊断挑战

我们提出了 2 例具有诊断挑战性的儿童/青少年复发/难治性侵袭性成熟 B 细胞非霍奇金淋巴瘤 (B-NHL) 病例,属于伯基特淋巴瘤和弥漫性大 B 细胞淋巴瘤谱系,并说明了用于治疗的不同治疗方案儿科和成人癌症中心。两例病例均显示不同大小的淋巴瘤细胞,偶尔有单个突出的核仁和异质的 BCL2 表达。细胞遗传学通过 FISH 揭示了具有 t(8:14)(q24.2;q32) 和 IGH::MYC 重排的复杂核型。下一代测序揭示了有害的 TP53 和 MYC 突变。我们的结论是,使用当前的病理分类、2022 年国际共识分类(ICC)和世界卫生组织血淋巴肿瘤分类(WHO-HAEM5),两者均可诊断为“伴有 MYC 重排的 DLBCL-NOS”。本报告阐述了可能遇到的诊断挑战和治疗困境,特别是对于青少年和年轻人 (AYA)。
更新日期:2024-03-12
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