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

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.