Abstract 827P
Background
An expanding number of genes predisposing to hematologic malignancies are being discovered by next-generation sequencing (NGS) technology. The 5th edition of the World Health Organization and International Consensus Classification revised their classification of hematologic neoplasms with germline predisposition acknowledging this development. We aimed to identify the mutational spectrum of germline predisposition in hematologic malignancies from Korean patients.
Methods
The study included 444 patients tested for hematologic malignancy panel testing at Pusan National University Yangsan Hospital from January 2019 to December 2022. The assay consisted of 200 genes related to hematologic malignancies and was performed with NGS on genomic DNA extracted from bone marrow specimens or peripheral blood. We identified potential germline variants by retrospective analysis of NGS results. Variant allele frequency > 0.3 of pathogenic or likely pathogenic variants in a known germline predisposition gene was considered potential germline variants. We could not confirm each variant's germline status due to the absence of cultured skin fibroblast specimens.
Results
Thirty-seven (8.33%) patients harbored 38 potential germline variants. DDX41 (21.62%, 8 patients), RUNX1 (10.81%, 4 patients), GATA2 (10.81%, 4 patients), and PAX5 (10.81%, 4 patients) were the most common genes. One patient had 2 variants in the SBDS gene, a compound heterozygote. Frameshift (18 variants, 47.37%) and missense (10 variants, 26.32%) were the main proportion of the 38 potential germline variants.
Conclusions
We found that DDX41, RUNX1, GATA2, and PAX5 are the most common genes in potential germline variants in hematologic malignancies in Korea. This study provides insight into the pathophysiology of germline predisposition in hematologic malignancies.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The author.
Funding
Has not received any funding.
Disclosure
The author has declared no conflicts of interest.
Resources from the same session
833P - New targets for adult T cell leukemia/lymphoma (ATLL): A map for ATLL immunotherapy
Presenter: Zahra Rezaei Borojerdi
Session: Poster session 18
834P - Phase II clinical study of VR-CAP regimen for first-line treatment of marginal zone lymphoma
Presenter: Junfeng Chu
Session: Poster session 18
835P - A safe and effective immunochemotherapy with oral sobuzoxane and etoposide for untreated diffuse large B cell lymphoma patients aged 80 and over
Presenter: Kaname Miyashita
Session: Poster session 18
838P - Matching-adjusted indirect comparison (MAIC) of axicabtagene ciloleucel (axi-cel) and epcoritamab (epcor) in relapsed/refractory (R/R) large B cell lymphoma (LBCL) after at least two prior systemic therapies (3L+)
Presenter: Olalekan Oluwole
Session: Poster session 18
840P - Genomic landscape, immune characteristics and prognostic mutation signature of extranodal NK/T cell lymphoma, nasal type in China
Presenter: Yue Chai
Session: Poster session 18
841P - Ki67-revised risk index to risk-stratify patients with extra-nodal natural killer/T cell lymphoma
Presenter: Shuo Li
Session: Poster session 18
842P - Multicenter real-world study of newly diagnosed advanced-stage extranodal natural killer/T cell lymphoma (ENKTL): Proposal for intensive therapy
Presenter: Yu-Ce Wei
Session: Poster session 18