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
Department of Pathology and Translational Pathobiology, LSU Health Shreveport, Shreveport, LA, USA.
Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Case Rep Hematol. 2017;2017:5873015. doi: 10.1155/2017/5873015. Epub 2017 Sep 24.
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.
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。