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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Asian Pacific Journal of Cancer Prevention
- نوع مقاله: Journal Article
- کلمات کلیدی: Acute myeloid leukaemia,FLT3 gene,FLT3-ITD gene,FLT3-D835 gene,NPM1 gene
- چکیده:
- چکیده انگلیسی: Objective: The most frequent acquired molecular abnormalities and important prognostic indicators in patients
with Acute Myeloid Leukaemia (AML) are fms-like tyrosine kinase-3 gene (FLT3) and nucleophosmin-1 (NPM1)
mutations. Our study aims to develop a cost effective and comprehensive in-house conventional PCR method for
detection of FLT3-ITD, FLT3-D835 and NPM1 mutations and to evaluate the frequency of these mutations in patients
with cytogenetically normal (CN) AML in our population. Methods: A total of 199 samples from AML patients (95
women, 104 men) were included in the study. Mutation analyses were performed using polymerase chain reaction
(PCR) and gene sequencing. Result: Sixty-eight patients were positive for the mutations. FLT3-ITD mutations were
detected in 32 patients (16.1%), followed by FLT3-D835 in 5 (2.5%) and NPM1 in 54 (27.1%). Double mutations of
NPM1 and FLT3-ITD were detected in 23 cases (11.6%). Assays validation were performed using Sanger sequencing
and showed 100% concordance with in house method. Conclusion: The optimized in-house PCR assays for the
detection of FLT3-ITD, FLT3-D835 and NPM1 mutations in AML patients were robust, less labour intensive and cost
effective. These assays can be used as diagnostic tools for mutation detection in AML patients since identification of
these mutations are important for prognostication and optimization of patient care.- انتشار مقاله: 25-07-1397
- نویسندگان: Yuslina Mat Yusoff,Zahidah Abu Seman,Norodiyah Othman,Nor Rizan Kamaluddin,Ezalia Esa,Nor Amalina Zulkiply,Julia Abdullah,Zubaidah Zakaria
- مشاهده
- جایگاه : پژوهشی
- مجله: Asian Pacific Journal of Cancer Prevention
- نوع مقاله: Journal Article
- کلمات کلیدی: Chronic myeloid leukemia,BCR/ABL gene,T315I mutation,tyrosine kinase inhibitor
- چکیده:
- چکیده انگلیسی: Objective: Chronic Myeloid Leukemia (CML) is caused by a reciprocal translocation between chromosomes 9
and 22, t(9;22) (q34;q11) which encodes for the BCR-ABL fusion protein. Discovery of Imatinib Mesylate (IM) as
first line therapy has brought tremendous improvement in the management of CML. However, emergence of point
mutations within the BCR-ABL gene particularly T315I mutation, affects a common BCR-ABL kinase contact residue
which impairs drug binding thus contribute to treatment resistance. This study aims to investigate the BCR-ABL T315I
mutation in Malaysian patients with CML. Methods: A total of 285 patients diagnosed with CML were included in this
study. Mutation detection was performed using qualitative real-time PCR (qPCR). Results: Fifteen out of 285 samples
(5.26%) were positive for T315I mutations after amplification with real-time PCR assay. From the total number of
positive samples, six patients were in accelerated phase (AP), four in chronic phase (CP) and five in blast crisis (BC).
Conclusion: Mutation testing is recommended for choosing various tyrosine kinase inhibitors (TKIs) to optimize
outcomes for both cases of treatment failure or suboptimal response to imatinib. Therefore, detection of T315I mutation
in CML patients are clinically useful in the selection of appropriate treatment strategies to prevent disease progression.- انتشار مقاله: 10-12-1396
- نویسندگان: Yuslina Mat Yusoff,Zahidah Abu Seman,Norodiyah Othman,Nor Rizan Kamaluddin,Ezalia Esa,Nor Amalina Zulkiply,Julia Abdullah,Zubaidah Zakaria
- مشاهده