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Genetic variants and clinical significance of pediatric acute lymphoblastic leukemia

	author = {Hong-Hong Zhang and Hong-Sheng Wang and Xiao-Wen Qian and Cui-Qing Fan and Jun Li and Hui Miao and Xiao-Hua Zhu and Yi Yu and Jian-Hua Meng and Ping Cao and Jun Le and Jun-Ye Jiang and Wen-Jing Jiang and Ping Wang and Xiao-Wen Zhai},
	title = {Genetic variants and clinical significance of pediatric acute lymphoblastic leukemia},
	journal = {Annals of Translational Medicine},
	volume = {7},
	number = {14},
	year = {2019},
	keywords = {},
	abstract = {Background: Acute lymphoblastic leukemia (ALL), the most common childhood malignancy, is characterized by molecular aberrations. Recently, genetic profiling has been fully investigated on ALL; however, the interaction between its genetic alterations and clinical features is still unclear. Therefore, we investigated the effects of genetic variants on ALL phenotypes and clinical outcomes.
Methods: Targeted exome sequencing technology was used to detect molecular profiling of 140 Chinese pediatric patients with ALL. Correlation of genetic features and clinical outcomes was analyzed. 
Results: T-cell ALL (T-ALL) patients had higher initial white blood cell (WBC) count (34.8×109/L), higher incidence of mediastinal mass (26.9%), more relapse (23.1%), and enriched NOTCH1 (23.1%), FBXW7 (23.1%) and PHF6 (11.5%) mutations. Among the 18 recurrently mutated genes, SETD2 and TP53 mutations occurred more in female patients (P=0.041), NOTCH1 and SETD2 mutants were with higher initial WBC counts (≥50×109/L) (P=0.047 and P=0.041), JAK1 mutants were with higher minimal residual disease (MRD) level both on day 19 and day 46 (day 19 MRD ≥1%, P=0.039; day 46 MRD  ≥0.01%, P=0.031) after induction chemotherapy. Multivariate analysis revealed that initial WBC counts (≥50×109/L), MLLr, and TP53 mutations were independent risk factors for 3-year relapse free survival (RFS) in ALL. Furthermore, TP53 mutations, age (},
	issn = {2305-5847},	url = {}