1. The Prognostic Significance of c-KIT Mutations in Core Binding Factor Acute Myeloid Leukemia
- Author
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Marwa Mahmoud Selim, Nevine F. Shafik, Rasha Mahmoud Allam, Dalia Ibraheem, and Lamiaa A. Fathalla
- Subjects
Adult ,Cancer Research ,medicine.medical_specialty ,Mutant ,medicine.disease_cause ,Gastroenterology ,Exon ,Recurrence ,Internal medicine ,medicine ,Humans ,Progression-free survival ,Child ,Core binding factor acute myeloid leukemia ,Mutation ,business.industry ,Incidence (epidemiology) ,Core Binding Factors ,Hematology ,Prognosis ,Leukemia, Myeloid, Acute ,Proto-Oncogene Proteins c-kit ,Oncology ,Mutation testing ,business ,Tyrosine kinase - Abstract
Background : Many recurrent mutations are encountered in core binding factor acute myeloid leukemia (CBF-AML) which may affect the prognosis. Approximately 20-45% of CBF-AML patients have KIT mutations which are having poor prognosis and high incidence of relapse. There is still insufficient data to categorize the patients with c-kit mutation into which risk group and there is a debate around whether Tyrosine kinase inhibitors can decrease the relapse risk and improve the prognosis of those patients . Patients and methods : This study was conducted throughout a period of three years, where 102 CBF-AML were enrolled in our study. We analyzed the incidence of c-KIT exon 8 and 17 D816V mutations in CBF-AML patients and studied the prognosis . Results : The prevalence of CBF-AML was 102/989 (10.3%), 13.7% and 8.7% in pediatrics and adults' groups respectively. c-KIT fragment mutation analysis revealed a mutant form in 27/102 (26.5%) patients. Exon 8 mutation was found in 4/40 pediatric and 2/62 adult patients, while exon 17 mutation was found in 9/40 pediatric and 12/62 adult patients. The c-KIT mutations was more common in t(8;21). There was no significant relationship between c-kit mutation and CR rates, while there was a significant inferior overall, disease free as well as progression free survival in the c-KIT mutant patients as compared to the wild group (p value 0.045, 0.036 and 0.024 respectively) in the pediatric group, however, this significance was not evident in the adults' group . Conclusion : According to our study, the results may suggest c-KIT mutation as a poor risk factor in pediatric CBF-AML.
- Published
- 2022