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墨西哥诊断为急性淋巴细胞白血病的儿科患者中的IKZF1基因缺失

IKZF1 Gene Deletion in Pediatric Patients Diagnosed with Acute Lymphoblastic Leukemia in Mexico.

作者信息

Ayón-Pérez Miriam F, Pimentel-Gutiérrez Helia J, Durán-Avelar Ma de Jesús, Vibanco-Pérez Norberto, Pérez-Peraza Víctor M, Pérez-González Óscar A, Barrientos-Ríos Rehotbevely, Santillán-Ávila Christian F, Zambrano-Zaragoza José F, Agraz-Cibrián Juan M, Gutiérrez-Franco Jorge, Vázquez-Reyes Alejandro

出版信息

Cytogenet Genome Res. 2019;158(1):10-16. doi: 10.1159/000499641. Epub 2019 Apr 12.

Abstract

The IKZF1 gene is formed by 8 exons and encodes IKAROS, a transcription factor that regulates the expression of genes that control cell cycle progression and cell survival. In general, 15-20% of the patients with preB acute lymphoblastic leukemia (preB ALL) harbor IKZF1 deletions, and the frequency of these deletions increases in BCR-ABL1 or Ph-like subgroups. These deletions have been associated with poor treatment response and the risk of relapse. The aim of this descriptive study was to determine the frequency of IKZF1 deletions and the success of an induction therapy response in Mexican pediatric patients diagnosed with preB ALL in 2 hospitals from 2017 to August 2018. Thirty-six bone marrow samples from patients at the Instituto Nacional de Pediatría in Mexico City and the Centro Estatal de Cancerología in Tepic were analyzed. The IKZF1 deletion was identified by MLPA using the SALSA MLPA P335 ALL-IKZF1 probemix. Deletions of at least 1 IKZF1 exon were observed in 7/34 samples (20.6%): 3 with 1 exon deleted; 1 with 2 exons, 1 with 5 exons, 1 with 6 exons, and 1 patient with a complete IKZF1 deletion. This study was descriptive in nature; we calculated the frequency of the IKZF1 gene deletion in a Mexican pediatric population with preB ALL as 20.6%.

摘要

IKZF1基因由8个外显子组成,编码IKAROS,一种转录因子,可调节控制细胞周期进程和细胞存活的基因的表达。一般来说,15%-20%的前B细胞急性淋巴细胞白血病(preB ALL)患者存在IKZF1缺失,且这些缺失在BCR-ABL1或Ph样亚组中的频率增加。这些缺失与治疗反应不佳和复发风险相关。本描述性研究的目的是确定2017年至2018年8月在两家医院诊断为preB ALL的墨西哥儿科患者中IKZF1缺失的频率以及诱导治疗反应的成功率。对来自墨西哥城国家儿科研究所和特皮克州立癌症中心的36例患者的骨髓样本进行了分析。使用SALSA MLPA P335 ALL-IKZF1探针混合物通过多重连接依赖探针扩增(MLPA)鉴定IKZF1缺失。在34个样本中的7个(20.6%)中观察到至少1个IKZF1外显子的缺失:3个样本缺失1个外显子;1个样本缺失2个外显子,1个样本缺失5个外显子,1个样本缺失6个外显子,1例患者存在IKZF1完全缺失。本研究本质上是描述性的;我们计算出墨西哥preB ALL儿科人群中IKZF1基因缺失的频率为20.6%。

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