TY - JOUR ID - 89605 TI - TERT Genotype Polymorphism: A Glance of Change Egyptian MDS Outcomes JO - Asian Pacific Journal of Cancer Prevention JA - APJCP LA - en SN - 1513-7368 AU - El Menshawy, Nadia AU - El-Ashwah, Shaimaa AU - Ebrahim, Mohamed A AU - Mortada, Metwally Ibrahem AU - Ramez, Ahmed AU - Attia, Doaa M AD - Department of Clinical Pathology, Hematology Unit, Faculty of Medicine, Mansoura University, Egypt. AD - Clinical Hematology Unit, Department of Internal Medicine, Faculty of Medicine, Mansoura University, Egypt. AD - Medical Oncology Unit, Department of Internal Medicine, Faculty of Medicine, Mansoura University, Egypt. Y1 - 2021 PY - 2021 VL - 22 IS - 5 SP - 1547 EP - 1555 KW - rs2242652TERT KW - SNVs KW - Myelodysplatic Syndromes DO - 10.31557/APJCP.2021.22.5.1547 N2 - Background: Myelodysplastic Syndromes (MDS)are clonal hematologic disorders characterized by genetic instability and ineffective hematopoiesis associated with telomere dysfunction. We aimed at investigating the association between the rs2242652 single nucleotide variant of the TERT gene and susceptibility for MDS, as well as its prognostic impact and relation to disease phenotype. Methods: Genotyping analysis was carried on 100 MDS patients recruited at Mansoura Oncology center, in addition to 100 healthy subjects for detection of rs2242652 variant of TERT gene on chromosome 5 by real time PCR following the protocol of Custom TaqMan® SNP Genotyping. Results: The rs2242652 TERT genetic polymorphism was associated with an increased risk of MDS (odds ratios 2.6 for genotype GA, 6.4 for genotype AA). The majority of AA homozygous mutant variant were associated pancytopenia (88%), poor risk cytogenetics (92%) and High/very high IPSS-R score (88%). At the end of follow-up (median 30 months), 14% of the cases transformed to secondary AML. The rate of leukemic transformation was significantly associated with the mutant AA genotype (93% of transformed cases, 52% of AA genotype cases; p < 0.0001). Survival outcome was inferior in AA mutant genotype (median 14 months, 95% CI: 12-16 months) to the GA genotype (median 30 months, 95% CI: 26-33 months) and those of the GG genotype (median not reached), p UR - https://journal.waocp.org/article_89605.html L1 - https://journal.waocp.org/article_89605_a1148368d8dff36a1cdc8824561b52a9.pdf ER -