ASSESSMENT OF ABL-1, ALK, BCL2, BRAF AND CCND-1 MUTATIONS IN ADULT EGYPTIAN PATIENTS WITH ACUTE MYELOID LEUKEMIA

Document Type : Preliminary preprint short reports of original research

Authors

1 Department of Internal Medicine – Hematology Unit, Faculty of Medicine, Alexandria University

2 clinical pathology, faculty of medicine , Alexandria

3 Departments of internal medicine, Hematology, Faculty of Medicine, University of Alexandria, Egypt

4 Hematology Unit, Department of Internal Medicine, Faculty of Medicine, Alexandria University

Abstract

Introduction
Next-generation sequencing (NGS) is a type of DNA sequencing technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence and here are select genes in AML:
ABL1: a protooncogene that encodes a protein tyrosine kinase involved cell division, adhesion, differentiation, and response to stress.
ALK: a receptor tyrosine kinase playing an important role in the development of the brain and exerts its effects on specific neurons in the nervous system.
BCL2: its family proteins play an important role in intrinsic apoptosis. Overexpression of BCL-2 proteins in acute myeloid leukemia can circumvent resistance to apoptosis and chemotherapy.
BRAF: a key component of the RAS-RAF-MAPK signal transduction pathway. Broadly, signaling through the MAPK cascade leads to phosphorylation and activation of transcription factors in the nucleus, thereby regulating key cellular processes including proliferation, differentiation, and apoptosis.
CCND1: The protein encoded by this gene forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition.
Aim
The aim of this work was to study the following genes ABL-1, ALK, BCL2, BRAF AND CCND-1 in a cohort of newly diagnosed Egyptian AML patients using NGS technique as well as their relation with other clinico-pathological features.

Keywords