A Case of Acute Lymphocytic Leukaemia with t(3;13) and Central Nervous System Leukemia after Allogenic Cord Blood Transplantation.

Cell medicine Pub Date : 2019-09-04 eCollection Date: 2019-01-01 DOI:10.1177/2155179019873850
Xiaofan Li, Yaqun Hong, Jiafu Huang, Nainong Li
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Abstract

Background: Acute lymphoblastic leukemia (ALL) is a neoplastic cancer characterized by clonal expansion of leukemic cells in lymph organs and bone marrow. Lots of kinds of different chromosomal translocations can be found in those leukemic cells. However, the role of abnormal chromosomes and genes in leukemogenesis is not yet fully understood. Identifying new chromosomal translocations can facilitate a better understanding of pathogenesis of this disease.

Case presentation: We report a rare case of acute lymphocytic leukaemia with t(3;13)(q29, q21). The patient was diagnosed pre-B-ALL with no abnormal chromosomal or gene fusion and achieved complete remission (CR) after induction chemotherapy; 10 months later, she relapsed in the consolidation, with cytogenetics tests showing 46, XX, t(3;13)(q29, q21). Given no CR after two chemotherapy regimens, the patient received salvage cord blood transplantation. Regular intrathecal methotrexate was applied to prevent central nervous system leukemia. Good graft versus leukemia was induced by daily injection of a low dose of IL-2 2 months post-transplantation. Minimal residual disease negativity was maintained until central nervous system (CNS) leukemia was found 8 months after transplantation. A whole exome sequencing was performed. Nine driver mutation genes and seven tumor genes were found.

Conclusions: We highly suspect that the relapse in the CNS after transplantation is associated with a rare chromosomal translocation.

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同种异体脐带血移植后急性淋巴细胞白血病合并t(3;13)和中枢神经系统白血病1例。
背景:急性淋巴细胞白血病(Acute lymphoblastic leukemia, ALL)是一种以淋巴器官和骨髓中白血病细胞克隆扩增为特征的肿瘤。在这些白血病细胞中可以发现多种不同的染色体易位。然而,异常染色体和基因在白血病发生中的作用尚未完全了解。发现新的染色体易位有助于更好地了解这种疾病的发病机制。病例介绍:我们报告一例罕见的急性淋巴细胞白血病伴t(3;13)(q29, q21)。患者诊断为b - all前期,无染色体异常或基因融合,诱导化疗后完全缓解(CR);10个月后,患者实变复发,细胞遗传学检查显示46,XX, t(3;13)(q29, q21)。两次化疗均无CR,患者接受补救性脐带血移植。常规鞘内注射甲氨蝶呤预防中枢神经系统白血病。移植后2个月每日注射低剂量IL-2诱导良好的移植物抗白血病。移植后8个月发现中枢神经系统(CNS)白血病。进行全外显子组测序。发现9个驱动突变基因和7个肿瘤基因。结论:我们高度怀疑移植后中枢神经系统的复发与罕见的染色体易位有关。
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Cell medicine
Cell medicine MEDICINE, RESEARCH & EXPERIMENTAL-
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