الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 156 |  |  |
| | | from | 156 | | |
Abstract
Acute lymphoblastic leukemia (ALL) is a malignant disease that causes abnormal cancerous cell growth in the lymphoblastic blood cells. It is a type of cancer that can affect anyone at any age and characterized by the rapid proliferation of cancerous cells, which leads to the destruction of healthy blood cells and impairs their basic functions in the body.Symptoms of ALL generally appear in the form of severe fatigue, loss of appetite, weight loss, bone pain, fever, and night sweats. There are several treatment options for ALL, including chemotherapy, radiation therapy, and bone marrow transplantation. The appropriate treatment is selected based on the patient’s condition and the stage of the disease. Although ALL is considered a serious type of cancer, recovery rates can be high if the disease is diagnosed early and the patient receives appropriate treatment. Diagnosis of ALL is performed through laboratory tests and a full body examination.
Dynamin 2 (DYM2) is a gene located on chromosome 19 and consists of 22 exons. It is encoded by DNA and expressed in living cells. This gene plays an important role in the process of cell division, which occurs in all living organisms. There are some studies that indicated that the Dynamin 2 gene may have a role in ALL. However, these studies are still in their early stages and require further research and analysis to determine the exact relationship between the Dynamin 2 gene and ALL.The objective of this study was to improve the risk stratification of T-cell Acute Lymphoblastic Leukemia (T-ALL) patients. It aimed to identify the frequency and clinical impact of DNM2 gene mutations among adult T-ALL cases.The current study included 25 T-ALL patients who were diagnosed with recruitment at Oncology Center of Mansoura University (OCMU).The selected patients were (17 male and 8 female) with mean age 34.76 (age range 17-62) before starting their treatment. Patients were followed up for 24 months until remission or death. Mutational analysis of DNM2 gene (exons 18 and 20) was performed for all patients. Results:•We identified DNM2 gene mutations in 19 out of 25 (76%) patients. The de-tected mutations were either missense or deletion. Only active mutations (deletion) were associated with poor induction remission response and high frequency of relapse. Two novel mutations were addressed among the studied cohort of patients. They included c.1866G>C (p.V596L) and c.1872delA in exon 18. A high frequency of silent mutations was also found in T-ALL patients, but with no impact on clinical features.•We analyzed the impact of DNM2 silent mutations on T-ALL patients overall survival (OS) by Kaplan Miere Curve. This analysis revealed that there were no significant differences between mutated and non-mutated T-ALL cases regarding OS.•T-ALL patients with active mutations had significantly shorter OS compared to those with silent or non-mutated.•The statistical analysis revealed that the mutated T-ALL patients displayed high frequency of relapse compared to non-mutated ones.Conclusion:The DNM2 mutations were prevalent among adult T-ALL patients and might have a role in the pathogenesis of the disease. Active DNM2 mutations were associated with poor clinical outcome. Moreover, high frequency of DNM2 mutations indicated that these mutations could be utilized in detection of MRD in T-ALL patients.