135 -4 (78) 2025 - Egamova S.K. - MUTATIONAL PROFILE OF THE СORE BINDING FACTOR OF ACUTE MYELOID LEUKEMIA

MUTATIONAL PROFILE OF THE СORE BINDING FACTOR OF ACUTE MYELOID LEUKEMIA

Egamova S.K. - Bukhara State Medical Institute named after Abu Ali ibn Sina

Resume

Acute myeloid leukemia (AML) with t(8;21) or inv(16) have been recognized as unique findings in AML and are commonly reported together as core binding factor-AML (CBF-AML). However, there is significant clinical and biological heterogeneity within this group of diseases, and relapse rates reach 40%. Moreover, translocations involving CBF are not sufficient to cause AML by themselves, and the full spectrum of mutations present with CBF translocations has not been elucidated. To address these issues, we performed extensive mutational analysis by PCR analysis in 52 patients with CBF-AML. Mutations in genes activating tyrosine kinase signaling (including TP53 and FLT3 ) were common in both CBF-AML subtypes. In contrast, mutations in genes that regulate chromatin conformation or encode elements of the cohesin complex were observed at high frequencies in t(8;21) AML (42% and 18%, respectively), whereas they were virtually absent in inv(16) AML.

Key words: acute myeloid leukemia, mutation, translocation

First page

768

Last page

772

For citation:Egamova S.K. - MUTATIONAL PROFILE OF THE СORE BINDING FACTOR OF ACUTE MYELOID LEUKEMIA//New Day in Medicine 4(78)2025 768-772 https://newdayworldmedicine.com/en/new_day_medicine/4-78-2025

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