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Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation.
Molecular Cytogenetics ( IF 1.3 ) Pub Date : 2019-11-19 , DOI: 10.1186/s13039-019-0460-2
Ina Lee 1 , Mary A Gudipati 1 , Elizabeth Waters 1 , Vu H Duong 2, 3 , Maria R Baer 2, 3 , Ying Zou 1, 3, 4
Affiliation  

Background Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) that progressed from myelodysplastic syndrome (MDS) in association with acquisition of 1q JTs. The sequence of molecular and cytogenetic changes in our patient may provide a mechanistic model for the generation of JTs in leukemia. Case presentation A 68-year-old man presented with pancytopenia. Bone marrow aspirate and biopsy showed a hypercellular marrow with multilineage dysplasia, consistent with MDS, with no increase in blasts. Karyotype and MDS fluorescence in situ hybridization (FISH) panel were normal. Repeat bone marrow aspirate and biopsy after 8 cycles of azacitidine, with persistent pancytopenia, showed no changes in morphology, and karyotype was again normal. Myeloid mutation panel showed mutations in RUNX1, SRSF2, ASXL1, and TET2. Three years after diagnosis, he developed AML with myelodysplasia-related changes. Karyotype was abnormal, with unbalanced 1q JTs to the short arms of acrocentric chromosomes 14 and 21, leading to gain of 1q. Conclusions Our patient had MDS with pathogenic mutations of the RUNX1, SRSF2, ASXL1, and TET2 genes and developed 1q JTs at the time of progression from MDS to AML. Our data suggest that the formation of 1q JTs involves multiple stages and may provide a mechanistic model for the generation of JTs in leukemia.

中文翻译:

在急性髓性白血病中通过多阶段过程发生的染色体 1q 跳跃易位是从具有 TET2 突变的骨髓增生异常综合征进展而来的。

背景跳跃易位(JTs)是一种罕见的染色体重排,其特征是一个供体染色体重新定位到多个受体染色体。在这里,我们描述了一种急性髓性白血病 (AML),它从骨髓增生异常综合征 (MDS) 与 1q JTs 的获得相关联。我们患者的分子和细胞遗传学变化序列可能为白血病中 JTs 的产生提供了一个机制模型。病例介绍 一名 68 岁男子出现全血细胞减少症。骨髓穿刺和活检显示骨髓细胞增多,多系发育不良,与 MDS 一致,原始细胞没有增加。核型和 MDS 荧光原位杂交 (FISH) 面板正常。8 周期阿扎胞苷后重复骨髓穿刺和活检,持续性全血细胞减少,形态无变化,核型再次正常。骨髓突变组显示 RUNX1、SRSF2、ASXL1 和 TET2 中的突变。诊断三年后,他患上了伴有骨髓增生异常相关变化的 AML。核型异常,14 号和 21 号近端着丝粒染色体短臂的 1q JTs 不平衡,导致 1q 增加。结论 我们的患者患有 MDS,其 RUNX1、SRSF2、ASXL1 和 TET2 基因发生致病性突变,并在 MDS 进展为 AML 时出现 1q JTs。我们的数据表明,1q JTs 的形成涉及多个阶段,并可能为白血病中 JTs 的产生提供一个机制模型。核型异常,14 号和 21 号近端着丝粒染色体短臂的 1q JTs 不平衡,导致 1q 增加。结论 我们的患者患有 MDS,其 RUNX1、SRSF2、ASXL1 和 TET2 基因发生致病性突变,并在 MDS 进展为 AML 时出现 1q JTs。我们的数据表明,1q JTs 的形成涉及多个阶段,并可能为白血病中 JTs 的产生提供一个机制模型。核型异常,14 号和 21 号近端着丝粒染色体短臂的 1q JTs 不平衡,导致 1q 增加。结论 我们的患者患有 MDS,其 RUNX1、SRSF2、ASXL1 和 TET2 基因发生致病性突变,并在 MDS 进展为 AML 时出现 1q JTs。我们的数据表明,1q JTs 的形成涉及多个阶段,并可能为白血病中 JTs 的产生提供一个机制模型。
更新日期:2020-04-23
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