P53 Gene Mutation in Low Grade Astrocytoma Among Sudanese Patients
Fawaz Eljili1*, Al Sadig Gassoum, PhD2, Sawsan Al Deaf, MD3, Mohammed Abdel Rahman Arbab, MD, PhD4 and Ahmed Zaidan, MD5
1Registrar of Neurosurgery, MRCS, MSc (Molecular Medicine), MPH, National centre for Neurological Sciences (NCNS), Khartoum, Sudan.
2Research laboratory, PhD Immunology, National centre for neurological sciences (NCNS), Khartoum, Sudan.
3Department of neurosurgery, National centre for neurological sciences (NCNS), Khartoum, Sudan.
4Professor of Neurosurgery, National centre for neurological sciences (NCNS), University of Khartoum department of surgery, Khartoum, Sudan.
5Neurosurgery department, Haj Almardi (Al tamyouz) Hospital, Khartoum, Sudan.
*Corresponding Author: Dr. Fawaz Eljili, Registrar of Neurosurgery, MRCS, MSc (Molecular Medicine), MPH, National centre for Neurological Sciences (NCNS), Khartoum, Sudan.
Received: July 25, 2022 Published: August 10, 2022
Abstract
Background: Low grade glioma (astrocytoma) represents 15% of the primary brain tumors diagnosed in adult per year, and it has risk of malignant transformation into high grade. The plan of its management consists of extensive surgical resection followed by chemotherapy and radiotherapy to reduce the possibility of recurrence of tumor or progression. Risk factor for such type of brain tumor isn’t so clear. TP53 is a well-known tumor suppressor gene in cancers in general; and its mutation is found to occur in 50% rendering it as the most common genetic alteration in cancer, and in glioma accounts for 19%, the most detected mutations are missense type (75%). In neurosurgery, studying glioma by histology alone provides a limited understanding about its behavior and progression (which occurs in all glioma) or risk of recurrence; so molecular study is required for better understanding natural history of the disease with better management and prognosis.
Objectives: To detect P53 gene mutations in low grade astrocytoma in Sudanese patients using polymerase chain reaction (PCR) and to correlate molecular findings with glioma histopathology variants.
Material and methods: This is a hospital based cross sectional research study conducted in the research lab at the National Center for Neurological Sciences (NCNS) during the period from January 2021 to September 2021. This study included 20 glioma tissue samples, 5 were sent to Macrogen Company for Sanger sequencing.
Results: The result of this study showed that, 12 patients were female, the most frequent age group ranging from 30-14 years in 41.7%, 8 patients were male, 75% of them were detected within the age group 20-25 years. Sanger sequencing showed C > G (rs1042522) in 60% of the patients, and D48E in 40%. The correlation between samples histopathology and P53 gene mutation showed, (C > G rs1042522) was associated with 2 samples of grade I and one of grade II, in addition to that, D48E mutation was associated with one sample grade II. One sample of grade I associated with insertion type of mutation.
Conclusion: The mutations of TP53 gene in our patients may considered as one of the causes of glioma tumorigenesis, small sample size in this study may be not conclusive, so further broad genetic study with larger sample size is required and recommended.
Keywords: P53 Gene Mutation, Astrocytomas, mutations, glioma tumorigenesis
Citation: Eljili F, Gassoum AS, Deaf SA, Arbab MAR, Zaidan A.“P53 Gene Mutation in Low Grade Astrocytoma Among Sudanese Patients”. SVOA Neurology 2022, 3:4, 157-164.
