Novel mutations of the nucleophosmin (NPM-1) gene in Egyptian patients with acute myeloid leukemia : a pilot study
المؤلفون المشاركون
Atiyyah, Tariq M.
Baathallah, Sharif
Mahmud, Sumayyah
Mumin, Iman
Khalaf, Muhammad
Shakir, Ulfat
Abd al-Hamid, Ala
Safwat, Izzat
Qasim, Nimat
المصدر
Journal of the Egyptian National Cancer Institute
العدد
المجلد 23، العدد 2 (30 يونيو/حزيران 2011)، ص ص. 73-78، 6ص.
الناشر
جامعة القاهرة المعهد القومي للأورام
تاريخ النشر
2011-06-30
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الموضوعات
الملخص EN
Mutations of the nucleophosmin (NPM-1) gene have been reported in 50–60 % of acute myeloid leukemia (AML) patients with normal karyotype.
This work was designed to study the prevalence and nature of NPM1 gene mutations in a group of Egyptian patients with AML to get an idea about the profile of NPM1 gene mutations in our society.
In 45 previously untreated patients with de novo AML, peripheral blood and / or bone marrow samples from all patients were subjected to microscopic morphologic examination, cytochemical analysis, and immunophenotyping and karyotyping.
Patients with normal cytogenetic results were selected for molecular analysis of NPM1 exon 12 by PCR amplification followed by DNA sequencing of the amplified product.
Twenty-one patients (46.7 %) had abnormal karyotype: six cases with t (15 ; 17), five cases with t(8 ; 21), five cases had trisomy 8, two cases carrying inv (3) and three cases had monopsony 7.
The remaining 24 patients (53.3 %) had normal karyotype.
These patients were then subjected to molecular analysis.
Out of these 24 patients with normal karyotype, mutant NPM-1 was detected in 11 patients (45.8 %) by DNA sequencing ; 2 cases showed type A mutation, 2 cases were harboring [ins 1015–1019 (CACG)], with point mutation [1006C > G], while the remaining 7 cases showed heterozygous deletion of nt A [del 1178 (A)].
Conclusion : Two novel NPM1 gene mutations were detected among our study population of AML patients identified as : the insertion CACG associated with point mutation, deletion of one base, or associated with point mutation.
NPM1 gene mutations may become a new tool for monitoring minimal residual disease in AML with normal karyotype.
Whether these previously unreported NPM-1 mutations will confer the same better outcome as previously reported mutations is currently unknown and warrants a larger study.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Qasim, Nimat& Abd al-Hamid, Ala& Atiyyah, Tariq M.& Baathallah, Sharif& Mahmud, Sumayyah& Mumin, Iman…[et al.]. 2011. Novel mutations of the nucleophosmin (NPM-1) gene in Egyptian patients with acute myeloid leukemia : a pilot study. Journal of the Egyptian National Cancer Institute،Vol. 23, no. 2, pp.73-78.
https://search.emarefa.net/detail/BIM-282854
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Qasim, Nimat…[et al.]. Novel mutations of the nucleophosmin (NPM-1) gene in Egyptian patients with acute myeloid leukemia : a pilot study. Journal of the Egyptian National Cancer Institute Vol. 23, no. 2 (Jun. 2011), pp.73-78.
https://search.emarefa.net/detail/BIM-282854
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Qasim, Nimat& Abd al-Hamid, Ala& Atiyyah, Tariq M.& Baathallah, Sharif& Mahmud, Sumayyah& Mumin, Iman…[et al.]. Novel mutations of the nucleophosmin (NPM-1) gene in Egyptian patients with acute myeloid leukemia : a pilot study. Journal of the Egyptian National Cancer Institute. 2011. Vol. 23, no. 2, pp.73-78.
https://search.emarefa.net/detail/BIM-282854
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 78
رقم السجل
BIM-282854
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر