Detection of NOTCH1 Mutation among Chronic Lymphocytic Leukemia in Sudanese Population

د.عبد العظيم; Ameen Abdulaziz  Basabaeen; Ibrahim Khider  Ibrahim; Gamal. M.  Elimairi

doi:10.52981/smlj.v12i1.3128

د.عبد العظيم Department of Haematology, Faculty of Medical Laboratory Sciences, Al Neelain University, Khartoum, Sudan.
Ameen Abdulaziz Basabaeen Department of Haematology, Faculty of Medical Laboratory Sciences, Al Neelain University, Khartoum, Sudan. - Ministry of Health & Population, Hadhramout, Yemen.
Ibrahim Khider Ibrahim Department of Haematology, Faculty of Medical Laboratory Sciences, Al Neelain University, Khartoum, Sudan
Gamal. M. Elimairi Department of Pathology, Faculty of Medicine, Elrazi University

DOI: https://doi.org/10.52981/smlj.v12i1.3128

الملخص

Introduction: The proto-oncogene NOTCH1 is frequently mutated in around 10% of patients with chronic lymphocytic leukemia (CLL). The NOTCH signaling pathway in CLL cells serves a role in survival and resistance to apoptosis. The most common mutation of NOTCH1 is C.7544-7545delCT, which accounts for ~80% of all NOTCH1 mutations.

Objectives: The aim of this study was to detect the prevalence the NOTCH1 c.7541_7542delCT mutation in Sudanese patients with B- cell lymphocytic leukemia (B-CLL).

Materials and Methods: A Case-control study was conducted in Khartoum state, Sudan, during the period from April 2017 to April 2018, involved 110 CLL patients. Physical examination, complete blood count, and Immunophenotyping were performed in all patients to confirm the diagnosis. Clinical staging such as Rai and Binet were studied. Blood samples were collected from all participants; DNA was extracted by using ANALYTIKJENA Blood DNA Extraction Kit. Detection of NOTCH1 c.7544_7545delCT mutation was performed using conventional PCR-based amplification refractory mutation system (ARMS) method.

Results: The NOTCH1 c.7544-7545CT mutation was detected by AS-PCR in 46 out of 110 CLL Sudanese patients (41.8%).The distribution of T allele among the cases was 93.6% while the negative cases were 6.4% in cases and controls, No significant association of NOTCH1 mutation with the age and gender. Also the distribution of G allele among cases was 91% while the negative was 9%, in compare to control in which 80.9% was positive and 19.1% were negative with no significant association.

Conclusion: NOTCH1 mutations were frequently detected in B cell CLL Sudanese patients.

Keywords:

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