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.

IF 1.3 4区医学 Q3 PATHOLOGY Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI:10.1177/10935266241230600

Fouad El Dana, Sofia Alexandra Garces Narvaez, Nader K El-Mallawany, Jennifer E Agrusa, ZoAnn E Dreyer, Andrea N Marcogliese, Mohamed Tarek Elghetany, Jyotinder N Punia, Chi Young Ok, Keyur P Patel, Dolores H Lopez-Terrada, Kevin E Fisher, Choladda V Curry

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Abstract

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).

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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：诊断难题。

我们介绍了两例诊断上具有挑战性的小儿/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，这两例病例属于伯基特淋巴瘤和弥漫大B细胞淋巴瘤的范畴，并说明了小儿和成人癌症中心采用的不同治疗方案。两个病例的淋巴瘤细胞大小不一，偶有单个突出核仁，BCL2表达不均。细胞遗传学通过FISH检测发现了t(8:14)(q24.2;q32)和IGH::MYC重排的复杂核型。新一代测序发现了有害的 TP53 和 MYC 基因突变。我们的结论是，根据目前的病理分类，即2022年国际共识分类（ICC）和世界卫生组织血淋巴瘤分类（WHO-HAEM5），这两例患者均可诊断为 "DLBCL-NOS伴MYC重排"。本报告阐述了可能遇到的诊断难题和治疗困境，尤其是青少年和年轻人（AYA）。

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来源期刊

Pediatric and Developmental Pathology 医学-病理学

CiteScore

3.70

自引率

5.30%

发文量

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.