Transient myeloproliferative disorder with partial trisomy 21.
Transient myeloproliferative disorder with partial trisomy 21.
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伴有部分 21 三体性的暂时性骨髓增生性疾病。
DOI：
10.1002/pbc.25624
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发表时间：
2015
影响因子：
3.2
通讯作者：
Shimada A.
中科院分区：
文献类型：
--
作者：
Takahashi T;Inoue A;Yoshimoto J;Kanamitsu K;Taki T;Imada M;Yamada M;Ninomiya S;Toki T;Terui K;Ito E;Shimada A.
据估计，髓系恶性肿瘤伴唐氏综合征（ML-DS）具有包括GATA 1突变在内的逐步白血病发生。21号染色体三体是ML-DS所必需的;然而，我们并不确切知道位于21号染色体上的哪个或哪些基因是ML-DS所必需的。我们报告一个女婴患有暂时性骨髓增生性疾病（TMD）和部分21三体。SNP微阵列分析显示21q22.12 - 21q22.3区域有10 Mb的扩增，包括DYRK1A、ERG和ETS，但不包括RUNX1基因。另外2例TMD患者为部分21三体，DYRK1A、ERG和ETS是最可能与GATA 1突变相关的基因。© 2015 Wiley Periodicals，Inc.
Myeloid malignancy with Down syndrome (ML‐DS) is estimated to have a step‐wise leukemogenesis includingGATA1mutation. Trisomy 21 is essential for ML‐DS; however, we do not know exactly which gene or genes located on chromosome 21 are necessary for the ML‐DS. We report a female infant with transient myeloproliferative disorder (TMD) and partial trisomy 21. SNP array analysis showed 10 Mb amplification of 21q22.12–21q22.3, which includedDYRK1A,ERG, andETSbut not theRUNX1gene. With two other reported TMD cases having partial trisomy 21,DYRK1A,ERG, andETSwere the most likely genes involved in collaboration with theGATA1mutation. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.