Evaluation of the cytomorphology, immunophenotype, and molecular genetics of lymphoblastic lymphoma/leukemia in serous effusion.

IF 1.7 4区医学 Q3 PATHOLOGY

Acta Cytologica Pub Date : 2025-09-29 DOI:10.1159/000548726

Wenjing Cui, Xiaochen Ding, Jiayan Liu, Peizhen Hu, Shirong Ma, Changwei Yang, Hong Xu

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引用次数: 0

Abstract

Introduction: This study aims to elucidate the spectrum of clinical manifestations, cytomorphology, immunophenotype, and the molecular genetic features of lymphoblastic lymphoma/acute lymphoblastic leukemia (LBL/ALL) in the context of serous effusions (SE).

Methods: A retrospective analysis evaluated the cytomorphological features, immunophenotype, and the cyto-histological correlations of twenty-one LBL/ALL associated with SE. Concurrently, bone marrow (BM) aspiration samples were analyzed using an integrated approach, including flow cytometry, RT-PCR, next generation sequencing (NGS) or whole transcriptome sequencing (WTS).

Results: Of the 21 cases of SE LBL/ALL, 16 cases were T-LBL/ALL and 5 cases were B-LBL/ALL. The cases included 17 pleural, 2 peritoneal, and 2 pericardial fluid samples. Both T-LBL/ALL and B-LBL/ALL in SE exhibit a blast-like morphology, characterized by small to medium size, irregular nuclear membranes, and inconspicuous nucleoli, alongside frequent nuclear fragmentation and apoptotic bodies. LBL/ALL express immaturity markers such as TdT (7/17, 41.2%), CD10 (6/12, 50%), CD43 (8/8, 100%), and CD99 (6/6, 100%). T-LBL/ALL and B-LBL/ALL specifically express T-cell markers [CD2 (3/6, 50%), CD3 (10/12, 83.3%), CD5 (2/11, 18.2%), CD7 (10/10, 100%)] or B-cell markers [CD20 (3/5, 60%), CD79a (4/4,100%), PAX5 (5/5, 100%)], respectively. A high proportion of primitive and immature lymphocytes exceeding 25% in BM was observed in T-LBL/ALL (5/7) and in one case of B-LBL/ALL. No BCR/ABL gene rearrangements were detected in any cases. Furthermore, fusion gene MLL::ENL and PLCALM::MLLT10, as well as mutations in genes including WT1, NOTCH1, PAX5, IKZF, ARID1A, BCOR, SETD2, ARID2, TET2, JAK3, NF1, and CEBPA, were identified in LBL/ALL through RT-PCR, NGS, or WTS.

Conclusion: The integration of clinical manifestations, cytological evaluation, and gene expression profiles is instrumental in achieving accurate diagnosis, sub-classification, and prognosis of LBL/ALL within the context of SE.

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浆液性淋巴细胞淋巴瘤/白血病的细胞形态学、免疫表型和分子遗传学评价。

简介：本研究旨在阐明浆液性积液（SE）背景下淋巴母细胞淋巴瘤/急性淋巴母细胞白血病（LBL/ALL）的临床表现、细胞形态学、免疫表型和分子遗传学特征。方法：回顾性分析21例LBL/ALL合并SE的细胞形态学特征、免疫表型和细胞组织学相关性。同时，骨髓（BM）抽吸样本使用综合方法进行分析，包括流式细胞术、RT-PCR、下一代测序（NGS）或全转录组测序（WTS）。结果：21例SE型LBL/ALL中，t型LBL/ALL 16例，b型LBL/ALL 5例。病例包括17例胸膜、2例腹膜和2例心包液样本。SE的T-LBL/ALL和B-LBL/ALL均表现为细胞样形态，其特征为小至中等大小，核膜不规则，核仁不明显，并伴有核断裂和凋亡小体。LBL/ALL表达TdT（7/17, 41.2%）、CD10（6/12, 50%）、CD43（8/8, 100%）、CD99（6/6, 100%）等不成熟标志物。T-LBL/ALL和B-LBL/ALL分别特异性表达t细胞标记物[CD2（3/ 6,50%）、CD3（10/ 12,83.3%）、CD5（2/ 11,18.2%）、CD7(10/ 10,100%)]或b细胞标记物[CD20（3/ 5,60%）、CD79a（4/4,100%）、PAX5(5/ 5,100%)]。在T-LBL/ALL（5/7）和1例B-LBL/ALL患者中，BM中原始淋巴细胞和未成熟淋巴细胞的比例超过25%。未发现BCR/ABL基因重排。此外，通过RT-PCR、NGS或WTS在LBL/ALL中鉴定出融合基因MLL::ENL和PLCALM::MLLT10，以及WT1、NOTCH1、PAX5、IKZF、ARID1A、bor、SETD2、ARID2、TET2、JAK3、NF1和CEBPA等基因突变。结论：结合临床表现、细胞学评估和基因表达谱，有助于实现SE背景下LBL/ALL的准确诊断、亚分类和预后。

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

Acta Cytologica 生物-病理学

CiteScore

3.70

自引率

11.10%

发文量

审稿时长

4-8 weeks

期刊介绍： With articles offering an excellent balance between clinical cytology and cytopathology, ''Acta Cytologica'' fosters the understanding of the pathogenetic mechanisms behind cytomorphology and thus facilitates the translation of frontline research into clinical practice. As the official journal of the International Academy of Cytology and affiliated to over 50 national cytology societies around the world, ''Acta Cytologica'' evaluates new and existing diagnostic applications of scientific advances as well as their clinical correlations. Original papers, review articles, meta-analyses, novel insights from clinical practice, and letters to the editor cover topics from diagnostic cytopathology, gynecologic and non-gynecologic cytopathology to fine needle aspiration, molecular techniques and their diagnostic applications. As the perfect reference for practical use, ''Acta Cytologica'' addresses a multidisciplinary audience practicing clinical cytopathology, cell biology, oncology, interventional radiology, otorhinolaryngology, gastroenterology, urology, pulmonology and preventive medicine.