ArticleAsian Pacific journal of cancer prevention : APJCP2021
TERT Genotype Polymorphism: A Glance of Change Egyptian MDS Outcomes.
Article in Asian Pacific journal of cancer prevention : APJCP, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 3 citations in OpenAlex.
- Distinct Clinical and Prognostic Features of Myelodysplastic Syndrome in Patients from the Middle East, North Africa, and Beyond: A Systemic Review.Journal of clinical medicine · 2023Review
- Lymphocyte Activation Gene 3 Single-Nucleotide Polymorphisms in Bone Marrow Failure Diseases.Analytical cellular pathology (Amsterdam) · 2022Article
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6 authors at 1 institution in 1 country.
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Abstract
backgroundMyelodysplastic 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.
methodsGenotyping 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.
resultsThe 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.
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