Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia

神经母细胞瘤RAS病毒癌基因同源物 克拉斯 髓系白血病 生物 基因 疾病 癌症研究 髓样 白血病 肿瘤科 遗传学 医学 突变 内科学
作者
Szilvia Krizsán,Borbála Péterffy,Bálint Egyed,Tibor Nagy,Endre Sebestyén,Lajos Hegyi,Zsuzsanna Jakab,Dániel Erdélyi,Judit Müller,György Péter,Krisztina Csanádi,Krisztián Kállay,Gergely Kriván,Gábor Barna,Gábor Bedics,Irén Haltrich,Gábor Ottóffy,Katalin Csernus,Ágnes Vojcek,L. Tiszlavicz,Krisztina Míta Gábor,Andrea Kelemen,Péter Hauser,Zsuzsanna Gaál,István Szegedi,Anikó Újfalusi,Béla Kajtár,Csongor Kiss,András Matolcsy,Botond Tímár,Gergely Kovács,Donát Alpár,Csaba Bödör
出处
期刊:The Journal of Molecular Diagnostics [Elsevier BV]
卷期号:25 (8): 555-568
标识
DOI:10.1016/j.jmoldx.2023.04.004
摘要

Pediatric acute myeloid leukemia (AML) represents a major cause of childhood leukemic mortality, with only a limited number of studies investigating the molecular landscape of the disease. Here, we present an integrative analysis of cytogenetic and molecular profiles of 75 patients with pediatric AML from a multicentric, real-world patient cohort treated according to AML Berlin-Frankfurt-Münster protocols. Targeted next-generation sequencing of 54 genes revealed 17 genes that were recurrently mutated in >5% of patients. Considerable differences were observed in the mutational profiles compared with previous studies, as BCORL1, CUX1, KDM6A, PHF6, and STAG2 mutations were detected at a higher frequency than previously reported, whereas KIT, NRAS, and KRAS were less frequently mutated. Our study identified novel recurrent mutations at diagnosis in the BCORL1 gene in 9% of the patients. Tumor suppressor gene (PHF6, TP53, and WT1) mutations were found to be associated with induction failure and shorter event-free survival, suggesting important roles of these alterations in resistance to therapy and disease progression. Comparison of the mutational landscape at diagnosis and relapse revealed an enrichment of mutations in tumor suppressor genes (16.2% versus 44.4%) and transcription factors (35.1% versus 55.6%) at relapse. Our findings shed further light on the heterogeneity of pediatric AML and identify previously unappreciated alterations that may lead to improved molecular characterization and risk stratification of pediatric AML.
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