RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes

被引：5
作者：
Burillo-Sanz, S. [1 ]
Vargas, M. T. [2 ]
Morales-Camacho, R. M. [2 ]
Caballero-Velazquez, T. [2 ]
Sanchez, J. [3 ,4 ]
Garcia-Lozano, J. R. [1 ]
de Soto, I. Perez [2 ]
Prats-Martin, C. [2 ]
Bernal, R. [2 ]
Perez-Simon, J. A. [2 ]
机构：
[1] Hosp Univ Virgen del Rocio, Serv Inmunol, Seville, Spain
[2] Univ Seville, Hosp Univ Virgen del Rocio, Inst Biomed Sevilla IBIS, Dept Hematol,CSIC, Seville, Spain
[3] Dept Genet Reprod & Fetal Med, Seville, Spain
[4] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain
来源：
HEMATOLOGICAL ONCOLOGY | 2017年 / 35卷 / 04期
关键词：
RUNX1; amplification; r(21); AML; ACUTE LYMPHOBLASTIC-LEUKEMIA; ACUTE MYELOID-LEUKEMIA; INTRACHROMOSOMAL AMPLIFICATION; GENE; MECHANISMS; IAMP21; CELLS; CONSEQUENCES; EXPRESSION;
D O I：
10.1002/hon.2287
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia-related changes and two ring 21 chromosomes with RUNX1 amplification. The patient's constitutional ring 21 chromosome showed alterations in tumour suppressor genes, and oncogenes, but not in RUNX1. RUNX1 gene expression at acute myeloid leukaemia diagnosis, showed no upregulation, so other genes may also be the genetic amplification targets in this patient. Copyright (C) 2016 John Wiley & Sons, Ltd.
引用
收藏
页码：894 / 899
页数：6
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