الفهرس 
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Abstract
Acute myeloid leukemia describes a heterogenous group of hematological disorders characterized by a block in the terminal differentiation of a particular hematopoietic cell lineage. Cytogenetic and molecular assays have allowed patients’ follow up aiming for detection of minimal residual disease, prediction of patients’ outcome, in addition to providing the rationale for designing novel molecular-targeted therapeutic strategies.
Human telomerase RNA componant (hTERC), encoded by the hTERC gene is frequently amplified in human tumors, which indicates that the hTERC gene may be a target for amplification during the transformation of human malignancies including hematological malignancies. This genetic event has implications in diagnosis, prognosis and therapeutics of cancer.
In this regard, this study aimed to detect hTERC gene amplification in AML patients by FISH analysis and its relation to the standard prognostic factors.
In the current work, BM or PB samples were obtained from 21 adult AML patients, presented at the Hematology/Onclology Unit, Ain Shams University Hospitals. The patients were further divided into two groups; group I (12 patients) containing newly diagnosed AML patients and a relapsed case and group II (8 patients) containing patients taken at 28th day of chemotherapy.
All patients were subjected to complete history, thorough clinical examination and laboratory investigations including: complete hemogram, bone marrow aspiration with examination of Leishman-stained peripheral blood and bone marrow smears, immunophenotyping, karyotyping and detection of hTERC gene amplification using FISH technique.
The present study reveals positive hTERC gene amplification in 19/21 cases (90.4%) and negative amplification of hTERC gene (normal) in 2/21 cases (9.6%). The percent of amplification ranged from 2% to 69%. The No. of copies ranged from 2-5 copies per interphase cell.
On comparing the de novo AML patients with patients at 28 days chemotherapy there was a statistical significant increase in the percent of amplification among group I than group II.
Moreover, a highly statistical significant increase in the number of patients having ≥ 20 % amplification in the de novo group than the 28 days chemotherapy group. We found that 11/13 (84.6) of group I having ≥ 20 % amplification and 2/8 (25%) of group II were associated with <20% of amplification.
We found no statistically significant relation between good and poor outcome patients considering hTERC gene amplification, although we found 7/11 (63.6%) having ≥ 20% of amplification had poor outcome and 6/10 (60%) of patients having < 20% of amplification had good outcome.
On comparing good outcome patients with poor outcome patients as regard the karyotype there was a statistically significant difference between both groups (P = 0.028).
There was a successful kayotype in 16 cases and classified into 3 subgroups accordingly; favorable, intermediate and unfavorable. All the favorable subgroup (4 patients) was associated with good outcome, 2 patients of them (50%) was associated with < 20% of amplification. The unfavorable subgroup (1 patient) and 9/11 cases (81.8%) of the intermediate subgroup were associated with poor outcome, 5 (41.7%) patients of them is associated with ≥ 20%.
There was a statistically significant decrease in the PB blast % amoung patients with ≥20% of amplification when compared to the group of <20% amplification.