Novel mutations of the nucleophosmin (NPM-1)‎ gene in Egyptian patients with acute myeloid leukemia : a pilot study

Joint Authors

Atiyyah, Tariq M.
Baathallah, Sharif
Mahmud, Sumayyah
Mumin, Iman
Khalaf, Muhammad
Shakir, Ulfat
Abd al-Hamid, Ala
Safwat, Izzat
Qasim, Nimat

Source

Journal of the Egyptian National Cancer Institute

Issue

Vol. 23, Issue 2 (30 Jun. 2011), pp.73-78, 6 p.

Publisher

Cairo University National Cancer Institute

Publication Date

2011-06-30

Country of Publication

Egypt

No. of Pages

6

Main Subjects

Medicine

Topics

Abstract 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.

American Psychological Association (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

Modern Language Association (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

American Medical Association (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

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references : p. 78

Record ID

BIM-282854