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Abstract
Nucleophosmin (NPM) encoded by the NPM1 gene is one of the most abundant nucleolar proteins that has been found over expressed in several solid human cancers and is also a frequent target of translocations and mutations occurring in hematopoietic tumors.
Although most NPM resides in the nucleolus, this molecule continuously shuttles from the nucleus to cytoplasm. It is implicated in promoting cell growth since its expression increases in response to mitogenic stimuli and above-normal amounts are detected in highly proliferating and malignant cells. On the other hand, since NPM contributes to growth-suppressing pathways through its interaction with ARF, loss of NPM expression or function can contribute to tumorigenesis. However, how mutated NPM contributes to leukemogensis still remains elusive. What we know at present could be only a part of the picture, others could be identified in the future.
Several conducted studies reported that NPM1 gene mutations are associated with good outcome. Furthermore, since NPM1 gene mutations are stable throughout the course of the disease, they are becoming now a new tool for monitoring minimal residual disease.
The aim of the present study was to detect the presence of NPM1gene mutation A in adult AML patients at diagnosis and to correlate the presence of this mutation with the biological characteristics of the disease.
This study was conducted on 20 adult patients with newly diagnosed de novo AML. AML patients included 10 males (50%) and 10 females (50%). Their ages ranged from19-60 years with a mean of 35.75 ± 14.98 years.
All patients included in our study were subjected to full history taking, complete clinical examination, routine laboratory investigations including complete blood count and bone marrow aspiration. Diagnostic peripheral blood and bone marrow samples were analyzed.
All samples underwent cytochemical staining, immunophenotyping and finally detection of NPM1 mutation and FLT3-ITD by PCR.
NPM1gene mutation A was detected in 35% (7/20) of our patients. The mutation correlated significantly with monocytic morphology (p=0.042) and extramedullary involvement (p=0.042).No significant statistical correlation was noted with female sex, hematological profile and FLT3-ITD association despite being present in a higher percent with the mutation.