The Prevalence of MYD88 L265P and TNFAIP3 Mutations and Their Correlations with Clinico-Hematological Profile in Egyptian Patients with Diffuse Large B Cell Lymphoma

Elbaz, Osama; Shaat, Rana M.; Abd El Ghaffar, Hasan A.; Shamaa, Sameh; Abdel-Masseih, Hanaa M.; Anber, Nahla; Mortada, Metwaly Ibrahim

doi:10.31557/APJCP.2023.24.7.2485

The Prevalence of MYD88 L265P and TNFAIP3 Mutations and Their Correlations with Clinico-Hematological Profile in Egyptian Patients with Diffuse Large B Cell Lymphoma

Document Type : Research Articles

Authors

¹ Hematology Unit, Department of Clinical Pathology, Mansoura Faculty of Medicine, Mansoura University, Egypt.

² Medical Oncology Unit, Department of Internal Medicine, Oncology Center, Faculty of Medicine, Mansoura University, Egypt.

³ Assistant Consultant of Biochemistry, Emergency Hospital, Mansoura University, Egypt.

10.31557/APJCP.2023.24.7.2485

Abstract

Background: Activated B-cell–like (ABC) subtype of diffuse large B-cell lymphoma (DLBCL) is characterized by chronic active B-cell receptor signaling and a constitutive activation of the NF-KB pathway. MYD88 L265P mutation occurs as a driving force of NF-KB overactivity in ABC-DLBCL. Nonetheless, in cases of DLBCL, the MYD88 L265P mutation has not yet been investigated in association with the tumour necrosis factor alpha induced protein3 (TNFAIP3) mutation. Objective: To investigate the frequency of MYD88 and TNFAIP3 mutations in DLBCL and their association to the clinico-hematological profile. Material and Methods: We used real-time polymerase chain reaction in order to search for MYD88 L265P and TNFAIP3 mutations in 100 DLBCL patients. Results: MYD88 L265P In 20% of cases, the CT heterozygous genotype was discovered. CT heterozygous genotype was more common in ABC type, stage IV, greater IPI groups, extra-nodal infiltration, and BM infiltration. It was also linked to a shorter OS. TNFAIP3 mutation GA heterozygous genotype was detected in 18% of the patients, with ABC-DLBCL subtype accounting for 77.8%. The GA heterozygous genotype was usually related with stage IV, extranodal infiltration, and a reduced life expectancy. Conclusion: MYD88 L265P and to lesser extent TNFAIP3 mutations are major mutations in ABC- DLBCL and may be predictive factors for poor OS in ABC- DLBCL patients.

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