Salvatori Guglielmo, Foligno Silvia, Sirleto Pietro, Genovese Silvia, Russo Serena, Coletti Valentina, Dotta Andrea, Luciani Matteo
Department of Neonatology, Bambino Gesù Children's Hospital, I-00165 Rome, Italy.
Department of Genetic Laboratories, Bambino Gesù Children's Hospital, I-00165 Rome, Italy.
Oncol Lett. 2017 Jan;13(1):191-195. doi: 10.3892/ol.2016.5401. Epub 2016 Nov 21.
Congenital leukemia is rare disease with an incidence of one to five cases per million births. Transient abnormal myelopoiesis (TAM), also called transient myeloproliferative disorder, is a pre-leukemia disorder that may occur in Down syndrome (DS) or non-DS infants. TAM may enter spontaneous remission; however, continual monitoring is required, as this disorder has been observed to develop into acute megakaryoblastic leukemia in 16-30% of cases. In the literature, 16 cases of TAM in non-DS infants have been reported. The case presented in the current study is, to the best of our knowledge, the first case of an Italian non-DS newborn presenting with clinical manifestations of acute leukemia at five days after birth, exhibiting a normal karyotype, trisomy 21 only in blast cells, and spontaneous remission. Chromosomal analyses on peripheral blood cells, bone marrow cells and dermal fibroblasts were conducted using a G-banding technique, and fluorescence hybridization (FISH) was used to identify the critical regions of DS. Amplification of GATA binding protein 1 () exon 2 genomic DNA was performed using polymerase chain reaction. Cytogenetic analysis of 50 peripheral blood cells and dermal fibroblasts from the patient revealed a normal karyotype: 46, XX. Conversely, cytogenetic analysis of the patient's bone marrow revealed an abnormal karyotype 47, XX+21. In order to investigate this result, FISH was performed, which identified the presence of three signals in 70% of the cells and two signals in 30% of bone marrow cells. sequencing revealed the substitution of a single base (c.150delG) in exon 2. Seven months after the initial analysis, FISH and cytogenetic analyses of the stimulated/unstimulated peripheral blood cells and bone marrow cells were performed, revealing that each exhibited diploid signals, as observed in a normal karyotype.
先天性白血病是一种罕见疾病，发病率为每百万例出生中有1至5例。短暂性异常髓系造血（TAM），也称为短暂性骨髓增殖性疾病，是一种白血病前期疾病，可能发生于唐氏综合征（DS）或非DS婴儿。TAM可能会自发缓解；然而，由于已观察到该疾病在16%至30%的病例中会发展为急性巨核细胞白血病，因此需要持续监测。在文献中，已报道了16例非DS婴儿的TAM病例。据我们所知，本研究中呈现的病例是第一例意大利非DS新生儿，出生五天后出现急性白血病的临床表现，核型正常，仅原始细胞中有21三体，且自发缓解。使用G显带技术对外周血细胞、骨髓细胞和皮肤成纤维细胞进行了染色体分析，并使用荧光原位杂交（FISH）来鉴定DS的关键区域。使用聚合酶链反应对GATA结合蛋白1（）外显子2基因组DNA进行扩增。对患者的50个外周血细胞和皮肤成纤维细胞进行细胞遗传学分析，结果显示核型正常：46, XX。相反，对患者骨髓的细胞遗传学分析显示核型异常：47, XX+21。为了研究这一结果，进行了FISH检测，结果显示70%的细胞中有三个信号，30%的骨髓细胞中有两个信号。测序显示外显子2中有一个单碱基替换（c.150delG）。在首次分析七个月后，对刺激/未刺激的外周血细胞和骨髓细胞进行了FISH和细胞遗传学分析，结果显示每个细胞均呈现二倍体信号，如同正常核型中所观察到的那样。
