Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia

doi:10.1038/s41598-020-80613-6

中山醫學大學機構典藏 CSMUIR > 中山醫學大學研究成果 > 期刊論文 > Item 310902500/23317

Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/23317

Title:	Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia
Authors:	Chang, YH;Yu, CH;Jou, ST;Lin, CY;Lin, KH;Lu, MY;Wu, KH;Chang, HH;Lin, DT;Lin, SW;Chen, HY;Yang, YL
Date:	2021
Issue Date:	2022-08-05T09:35:19Z (UTC)
Publisher:	NATURE RESEARCH
ISSN:	2045-2322
Abstract:	T-cell acute lymphoblastic leukemia (T-ALL) is caused by the accumulation of multiple genetic alterations. To determine the frequency of common genetic mutations and possible prognostic markers in childhood T-ALL, we performed targeted sequencing of 67 genes across 64 cases treated according to Taiwan Pediatric Oncology Group protocols between January 2002 and December 2015. Together, 302 variants were identified in 60 genes including 233 single nucleotide variants and 69 indels. Sixty-four samples had a median number of six genetic lesions each (range 1-17). Thirteen genes had mutation frequencies>10%, and 5 were>20%, with the highest being NOTCH1 (70.31%). Protocadherins FAT1 (32.81%) and FAT3 (17.19%), and the ubiquitin ligase component FBXW7 (28.13%) had higher mutation frequencies than previously reported. Other mutation frequencies (PHF6, DNM2, DNMT3A, CNOT3, and WT1) were within previously reported ranges. Three epigenetic-related genes (KMT2D, DNMT3A, and EZH2) were mutated in our cohort. JAK-STAT signaling pathway genes had mutation frequencies of 3-13% and were observed in 23 cases (35.94%). Changes to genes in the ErbB signaling pathway were detected in 20 cases (31.25%). Patients with NOTCH1/FBXW7 mutations and RAS/PTEN germline exhibited better 5-year overall survival rates.
URI:	http://dx.doi.org/10.1038/s41598-020-80613-6 https://www.webofscience.com/wos/woscc/full-record/WOS:000621920400117 https://ir.csmu.edu.tw:8080/handle/310902500/23317
Relation:	SCIENTIFIC REPORTS ,2021,v11,issue 1
Appears in Collections:	[中山醫學大學研究成果] 期刊論文

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