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首页> 外文期刊>Molecular cytogenetics >Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation
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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

机译：在急性髓性白血病中，多阶段过程发生染色体1Q的跳跃从骨髓增生综合征与TET2突变进行

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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.? The Author(s). 2019.
机译：背景：跳跃易位（JTS）是稀有染色体重排，其特征，其特征在于重新定位一个供体染色体到多个受体染色体。在这里，我们描述了与收购1Q JTS的骨髓增强综合征（MDS）进行的急性髓性白血病（AML）。我们患者的分子和细胞遗传学变化的序列可以为白血病中的JTS产生机械模型.CASE演示：一名68岁的男子患有PancyTopenia。骨髓抽吸和活组织检查显示出一种含有多线性发育不良的高髓质骨髓，与MDS一致，爆炸没有增加。核型和MDS荧光原位杂交（鱼）面板是正常的。重复骨髓抽吸和活检后8？偶氮辛胺的循环，具有持续的韧皮细胞症，表现出形态的变化，核型再次正常。骨髓突变组在RUNX1，SRSF2，ASXL1和TET2中显示出突变。诊断三年后，他开发了与骨髓瓣相关变化的AML。亚型型异常，Unbalcentric染色体14和21的短臂，导致1Q.Conclusions：我们的患者具有RUNX1，SRSF2，ASXL1和TET2基因的致病性突变，并在其中开发1Q JTS的MDS。从MD到AML的进展时间。我们的数据表明，1Q JTS的形成涉及多个阶段，可以为白血病中的JTS产生机械模型。作者。 2019年。

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