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Document Type |
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Thesis |
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Document Title |
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Identification of a genetic variant associated with BCR/ABL treatment resistance in CML patients. تحديد متغير وراثي مرتبط بمقاومة علاج BCR / ABL في مرضى سرطان الدم النخاعي المزمن. |
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Subject |
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Faculty of Applied Medical Sciences |
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Document Language |
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Arabic |
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Abstract |
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Background: Over the last twenty years, the discovery of BCR/ABL1 TKIs has drastically improved the prognosis for patients with Philadelphia chromosome-positive (Ph+) at any stage in chronic myeloid leukemia (CML). They are leading to a rapid decrease in leukemic cells and symptoms. However, until recently, patients still face treatment resistance and reaction control problems, and there is no reliable evidence for ways of restoring the response to treatment and preventing disease progression. Indeed, Researchers have not been able to treat or explain 20–40 percent of CML cases with TKI resistance. However, since the development of this resistance remains a significant concern, there is a need for therapeutic interventions and molecular testing techniques to deliver better patient outcomes.
In that context, this study aimed to investigate the association of IGSF3 mutations with treatment resistance in CML patients.
Materials and methods: Samples were collected from CML patients at 3 stages (diagnosis, remission, and relapse). Sanger sequencing for IGSF3 was performed on 42 samples collected from 16 patients. Cytogenetic and molecular results, in addition to clinical manifestation and treatment plan, were collected from patients’ records.
Results: The study confirmed that mutation in (IGSF3) was detected in all resistant patients at all stages.
Conclusion: TKI resistance has a variety of molecular pathways, ranging from alterations in the molecular drug target itself to processes that alter drug concentration or modify the signaling network of leukemic cells. Identification of biomarkers of drug response is crucial for a better treatment selection, and some of them may constitute new targets for future therapeutic approaches. Further, screening on larger cohort and functional validation of IGSF3 as a drug resistance target is highly recommended.
Key words: chronic myeloid leukemia (CML), Myeloproliferative disorder, tyrosine kinas inhibitor, mutations screening, resistance treatment |
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Supervisor |
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Dr. Heba A AL-Khatabi |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1445 AH
2023 AD |
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Added Date |
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Saturday, October 21, 2023 |
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Researchers
| رزان عبدالله الشريف | Alshreef, Razan Abdullah | Researcher | Master | |
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