Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients

Abstract In addition to somatic mutations, germline genetic predisposition to hematologic malignancies is currently emerging as an area attracting high research interest. In this study, we investigated genetic alterations in Korean acute lymphoblastic leukemia/lymphoma (ALL) patients using targeted...

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Autores principales:	Sang-Yong Shin, Hyeonah Lee, Seung-Tae Lee, Jong Rak Choi, Chul Won Jung, Hong Hoe Koo, Sun-Hee Kim
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2d18aa4ddb304236951dd8ae8371322d
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spelling	oai:doaj.org-article:2d18aa4ddb304236951dd8ae8371322d2021-12-02T16:55:46ZRecurrent somatic mutations and low germline predisposition mutations in Korean ALL patients10.1038/s41598-021-88449-42045-2322https://doaj.org/article/2d18aa4ddb304236951dd8ae8371322d2021-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-88449-4https://doaj.org/toc/2045-2322Abstract In addition to somatic mutations, germline genetic predisposition to hematologic malignancies is currently emerging as an area attracting high research interest. In this study, we investigated genetic alterations in Korean acute lymphoblastic leukemia/lymphoma (ALL) patients using targeted gene panel sequencing. To this end, a gene panel consisting of 81 genes that are known to be associated with 23 predisposition syndromes was investigated. In addition to sequence variants, gene-level copy number variations (CNVs) were investigated as well. We identified 197 somatic sequence variants and 223 somatic CNVs. The IKZF1 alteration was found to have an adverse effect on overall survival (OS) and relapse-free survival (RFS) in childhood ALL. We found recurrent somatic alterations in Korean ALL patients similar to previous studies on both prevalence and prognostic impact. Six patients were found to be carriers of variants in six genes associated with primary immunodeficiency disorder (PID). Of the 81 genes associated with 23 predisposition syndromes, this study found only one predisposition germline mutation (TP53) (1.1%). Altogether, our study demonstrated a low probability of germline mutation predisposition to ALL in Korean ALL patients.Sang-Yong ShinHyeonah LeeSeung-Tae LeeJong Rak ChoiChul Won JungHong Hoe KooSun-Hee KimNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sang-Yong Shin Hyeonah Lee Seung-Tae Lee Jong Rak Choi Chul Won Jung Hong Hoe Koo Sun-Hee Kim Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
description	Abstract In addition to somatic mutations, germline genetic predisposition to hematologic malignancies is currently emerging as an area attracting high research interest. In this study, we investigated genetic alterations in Korean acute lymphoblastic leukemia/lymphoma (ALL) patients using targeted gene panel sequencing. To this end, a gene panel consisting of 81 genes that are known to be associated with 23 predisposition syndromes was investigated. In addition to sequence variants, gene-level copy number variations (CNVs) were investigated as well. We identified 197 somatic sequence variants and 223 somatic CNVs. The IKZF1 alteration was found to have an adverse effect on overall survival (OS) and relapse-free survival (RFS) in childhood ALL. We found recurrent somatic alterations in Korean ALL patients similar to previous studies on both prevalence and prognostic impact. Six patients were found to be carriers of variants in six genes associated with primary immunodeficiency disorder (PID). Of the 81 genes associated with 23 predisposition syndromes, this study found only one predisposition germline mutation (TP53) (1.1%). Altogether, our study demonstrated a low probability of germline mutation predisposition to ALL in Korean ALL patients.
format	article
author	Sang-Yong Shin Hyeonah Lee Seung-Tae Lee Jong Rak Choi Chul Won Jung Hong Hoe Koo Sun-Hee Kim
author_facet	Sang-Yong Shin Hyeonah Lee Seung-Tae Lee Jong Rak Choi Chul Won Jung Hong Hoe Koo Sun-Hee Kim
author_sort	Sang-Yong Shin
title	Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
title_short	Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
title_full	Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
title_fullStr	Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
title_full_unstemmed	Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
title_sort	recurrent somatic mutations and low germline predisposition mutations in korean all patients
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/2d18aa4ddb304236951dd8ae8371322d
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Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients

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