Mutational Profiling of Korean Lymphomas and Diffuse Large B-Cell Lymphoma Subtype Classification Using Targeted Panel Sequencing

IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Gilsung Yoo , Jooyoung Cho , Hyeong Ju Kwon , Taesic Lee , JinJu Kim , Juwon Kim
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引用次数: 0

Abstract

Background

Lymphoma is a common hematological malignancy with diverse morphological and immunophenotypic characteristics that may affect treatment and outcomes. Thus, accurate differential diagnosis is crucial, and molecular genetic testing is valuable. We aimed to investigate the genetic characteristics of Korean patients with lymphoma using a next-generation sequencing (NGS)-based targeted panel.

Methods

We designed a panel covering 588 genes clinically and diagnostically relevant in lymphoma through a literature review and performed targeted panel sequencing of 34 formalin-fixed paraffin-embedded samples from patients with lymphoma.

Results

Among the 34 samples examined, diffuse large B-cell lymphoma (DLBCL) was the most common, followed by NK/T-cell lymphoma, peripheral T-cell lymphoma, anaplastic large cell lymphoma, T-lymphoblastic leukemia/lymphoma, MALT lymphoma, and mantle cell lymphoma. The genes TP53, MYD88, CD79B, FOXO1, KMT2D, MYD88, TNFRSF14, and TET2 had the highest number of mutations. For patients with DLBCL, we used modified genetic subtype classification algorithms from previous studies and successfully classified 31.3–50 % of them into specific subtypes. Notably, four patients were allocated a distinct subtype across all algorithms.

Conclusions

Our targeted panel sequencing can effectively reveal lymphoma mutational profiles of samples in clinical settings and partially outline the mutational landscape of lymphomas in the Korean population, particularly DLBCL.
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来源期刊
Archives of Medical Research
Archives of Medical Research 医学-医学:研究与实验
CiteScore
12.50
自引率
0.00%
发文量
84
审稿时长
28 days
期刊介绍: Archives of Medical Research serves as a platform for publishing original peer-reviewed medical research, aiming to bridge gaps created by medical specialization. The journal covers three main categories - biomedical, clinical, and epidemiological contributions, along with review articles and preliminary communications. With an international scope, it presents the study of diseases from diverse perspectives, offering the medical community original investigations ranging from molecular biology to clinical epidemiology in a single publication.
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