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一例儿童急性髓系白血病(AML,M5型),伴有一条新中心染色体neo(1)(qter→q23约24::q23约24→q43→neo→q43→qter)以及8号和21号染色体四体。

A case of childhood acute myeloid leukemia AML (M5) with a neocentric chromosome neo(1)(qter-->q23 approximately 24::q23 approximately 24-->q43-->neo-->q43-->qter) and tetrasomy of chromosomes 8 and 21.

作者信息

de Figueiredo Amanda Faria, Mkrtchyan Hasmik, Liehr Thomas, Soares Ventura Eliane Maria, de Jesus Marques-Salles Terezinha, Santos Neide, Ribeiro Raul Corrêa, Abdelhay Eliana, Macedo Silva Maria Luiza

机构信息

Carlos Chagas Filho Biophysics Institute, Federal University of Rio de Janeiro (U.F.R.J.), Rio de Janeiro, RJ, Brazil.

出版信息

Cancer Genet Cytogenet. 2009 Sep;193(2):123-6. doi: 10.1016/j.cancergencyto.2009.05.001.

Abstract

Hyperdiploidy is rarely observed in childhood acute myeloid leukemia (AML). Described here is the case of a 2(1/2)-year-old girl with AML-M5 and 51 chromosomes characterized by double tetrasomy of chromosomes 8 and 21 and also a neocentric derivative chromosome neo(1)(qter-->q23 approximately 24::q23 approximately 24-->q43-->neo-->q43-->qter). Little is known about the prognostic significance of these chromosomal abnormalities in childhood AML. In the actual case, complete remission was achieved after chemotherapy, which continued for 7 months. No acquired neocentric chromosome 1 has been described previously, even though neocentromere formation has been reported for other chromosomes in neoplasms.

摘要

超二倍体在儿童急性髓系白血病(AML)中很少见。本文描述了一名2岁半患有AML-M5的女孩,其有51条染色体,特征为8号和21号染色体双四体,还有一条新着丝粒衍生染色体neo(1)(qter→q23约24::q23约24→q43→neo→q43→qter)。关于这些染色体异常在儿童AML中的预后意义知之甚少。在实际病例中,化疗7个月后实现了完全缓解。尽管此前已报道肿瘤中其他染色体有新着丝粒形成,但此前尚未描述过获得性1号新着丝粒染色体。

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