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T细胞急性淋巴细胞白血病/淋巴瘤:两例儿科病例讨论及其与其他成熟T细胞恶性肿瘤的鉴别

T-Cell Acute Lymphoblastic Leukemia/Lymphoma: Discussion of Two Pediatric Cases and Its Distinction from Other Mature T-Cell Malignancies.

作者信息

Wei Eric X, Leventaki Vasiliki, Choi John K, Raimondi Susana C, Azzato Elizabeth M, Shurtleff Sheila A, Ong Menchu G, Veillon Diana M, Cotelingam James D, Shackelford Rodney E

机构信息

Department of Pathology and Translational Pathobiology, LSU Health Shreveport, Shreveport, LA, USA.

Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.

出版信息

Case Rep Hematol. 2017;2017:5873015. doi: 10.1155/2017/5873015. Epub 2017 Sep 24.

Abstract

Gamma delta () T-cell antigen receptor (TCR) expression and its related T-cell differentiation are not commonly reported in T-cell acute lymphoblastic leukemia/lymphoma (T-ALL). Here we report two pediatric T-ALL cases and present their clinical features, histology, immunophenotypes, cytogenetics, and molecular diagnostic findings. The first patient is a two-year-old girl with leukocytosis, circulating lymphoblasts, and a cryptic insertion of a short-arm segment at 10p12 into the long-arm segment of 11q23 resulting in an MLL and AF10 fusion transcript, which may be the first reported in T-ALL. She responded to the chemotherapy protocol poorly and had persistent diseases. Following an allogeneic bone marrow transplant, she went into remission. The second patient is an eleven-year-old boy with a normal white cell count, circulating blasts, and a normal karyotype, but without any immature cellular markers by flow cytometric analysis. He responded to the chemotherapy well and achieved a complete remission. These cases demonstrate the diverse phenotypic, cytogenetic, and molecular aspects of T-ALL. Early T-precursor- (ETP-) ALL and their differential diagnosis from other mature T-cell leukemia/lymphomas are also discussed.

摘要

γδ(γδ)T细胞抗原受体(TCR)表达及其相关的T细胞分化在T细胞急性淋巴细胞白血病/淋巴瘤(T-ALL)中并不常见。在此,我们报告两例儿童T-ALL病例,并呈现其临床特征、组织学、免疫表型、细胞遗传学及分子诊断结果。首例患者为一名两岁女童,有白细胞增多、循环原始淋巴细胞,以及10号染色体短臂10p12片段隐匿插入11号染色体长臂11q23片段,导致MLL和AF10融合转录本,这可能是T-ALL中首次报道的此类情况。她对化疗方案反应不佳且疾病持续存在。在接受异基因骨髓移植后,她进入缓解期。第二例患者是一名11岁男孩,白细胞计数正常,有循环原始细胞,核型正常,但流式细胞术分析未发现任何不成熟细胞标志物。他对化疗反应良好并实现完全缓解。这些病例展示了T-ALL在表型、细胞遗传学和分子方面的多样性。同时也讨论了早期T前体细胞(ETP)-ALL及其与其他成熟γδ T细胞白血病/淋巴瘤的鉴别诊断。

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