الفهرس 
Aim of workOnly 14 pages are availabe for public view
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Abstract
Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease that accounts for 20% and 70% of acute leukemia in children and adults, respectively. Currently, cytogenetic analysis at diagnosis allows for stratification of AML cases into a favorable, intermediate and unfavorable group. The Wilms’ tumor gene mutation is one of the most common mutation events after nucleuphosmine 1 (NPM1) and internal tandem duplications (ITDs) which is associated with unfavorable prognosis.
The present study was designed to estimate the frequency of WT1 gene mutation in adult AML patient and its prognostic significance in relation to clinical outcome. It included 50 newly diagnosed adult AML patients aging from 18 to 77 years and 10 normal cases as a control. They were selected from Oncology Center of Mansoura University (OCMU), during the period extending from May 2010 to January 2012. All included subjects were submitted to detailed history taking and clinical examination, laboratory investigations which include CBC, bone marrow aspiration, conventional karyotiping and immunophenotyping by flowcytometry. The WT1 gene mutational screening was done by PCR –SCCP method.
The main results of the present study are:
1) No statistically significant difference was found between cases and controls as regard demographic characteristics.
2) There was statistically significant increase in TLC and statistically significant decrease in RBCs, hemoglobin, hematocrit and platelets in the patients group in comparison to control group.
3) In the patients group, normal karyotyping (NK) was reported in 28 cases (56%) while 11q23 was reported in 4 cases (8%), t(15;17) was reported in 3 cases (6%), t(8;21) reported in 7 cases (14%), inv16 reported in 6 cases (12%), t(9;11) reported in 1 case (2%) and t(6;9) reported in 1 case (2%).
4) The incidence of WT1 gene mutation was positive in 9 cases, representing (18%) of the study population, the site of mutation in all cases was exon 7.
5) There was complete remission in 22 cases (44%), death in treatment in 14 cases (28%), refractory to treatment in 11 cases (22%) and relapse in 3 cases (6%).
6) There was statistically insignificant difference between positive and negative cases for WT1 gene mutation as regard mean age, gender distribution, clinical presentation, laboratory investigations, bone marrow cellulartiy, FAB classification, karyotyping and cytogenetic abnormalities.
7) Positive cases for WT1 gene mutation had a bad prognosis compared to negative WT1 cases as seen from higher relapse rate, lower disease free survival (DFS) and lower overall survival (OS) in positive cases while there was higher complete remission (CR) in negative cases.
In conclusion, acute myeloid leukemia (AML) patients with Wilms’ tumor 1 (WT1) gene mutation have poor clinical outcome.We recommend testing the WT1 mutations as part of molecularly based risk assessment and risk-adapted treatment stratification of patients with AML.