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Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study

 Seri Jeong  ;  Yu Jin Park  ;  Woobin Yun  ;  Seung-Tae Lee  ;  Jong Rak Choi  ;  Cheolwon Suh  ;  Jae-Cheol Jo  ;  Hee Jeong Cha  ;  Jee-Yeong Jeong  ;  HeeKyung Chang  ;  Yoon Jin Cha  ;  Hyerim Kim  ;  Min-Jeong Park  ;  Wonkeun Song  ;  Eun-Hae Cho  ;  Eun-Goo Jeong  ;  Junnam Lee  ;  Yongmin Park  ;  Yong Seok Lee  ;  Da Jung Kim  ;  Ho Sup Lee 
 SCIENTIFIC REPORTS, Vol.10(1) : 13359, 2020-08 
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Aged ; Ankyrins / genetics* ; Female ; Genetic Heterogeneity* ; Genetic Predisposition to Disease / genetics* ; Humans ; Kaplan-Meier Estimate ; Lymphoma, Mantle-Cell / diagnosis ; Lymphoma, Mantle-Cell / genetics* ; Lymphoma, Mantle-Cell / mortality ; Male ; Middle Aged ; Mutation / genetics ; Prognosis ; Progression-Free Survival ; Republic of Korea / epidemiology ; Survival Analysis ; Tumor Suppressor Protein p53 / genetics* ; Whole Genome Sequencing
The molecular features of mantle cell lymphoma (MCL), including its increased incidence, and complex therapies have not been investigated in detail, particularly in East Asian populations. In this study, we performed targeted panel sequencing (TPS) and whole-exome sequencing (WES) to investigate the genetic alterations in Korean MCL patients. We obtained a total of 53 samples from MCL patients from five Korean university hospitals between 2009 and 2016. We identified the recurrently mutated genes such as SYNE1, ATM, KMT2D, CARD11, ANK2, KMT2C, and TP53, which included some known drivers of MCL. The mutational profiles of our cohort indicated genetic heterogeneity. The significantly enriched pathways were mainly involved in gene expression, cell cycle, and programmed cell death. Multivariate analysis revealed that ANK2 mutations impacted the unfavourable overall survival (hazard ratio [HR] 3.126; P = 0.032). Furthermore, TP53 mutations were related to worse progression-free survival (HR 7.813; P = 0.043). Among the recurrently mutated genes with more than 15.0% frequency, discrepancies were found in only 5 genes from 4 patients, suggesting comparability of the TPS to WES in practical laboratory settings. We provide the unbiased genetic landscape that might contribute to MCL pathogenesis and recurrent genes conferring unfavourable outcomes.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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