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Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis
Linkoping Univ, Dept Clin & Expt Med, Linkoping, Sweden..
Linkoping Univ, Dept Clin & Expt Med, Linkoping, Sweden.;Linkoping Univ, Dept Haematol, Linkoping, Sweden..
Linkoping Univ, Dept Med & Hlth Sci, Linkoping, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
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2015 (English)In: OncoTarget, ISSN 1949-2553, E-ISSN 1949-2553, Vol. 6, no 28, 25109-25120 p.Article in journal (Refereed) Published
Abstract [en]

Telomerase reverse transcriptase gene (TERT) promoter mutations are identified in many malignancies but not in hematological malignancies. Here we analyzed TERT and protection of telomeres 1 gene (POT1) mutations, and four different TERT SNVs in 226 acute myeloid leukemia (AML) patients and 806 healthy individuals in a case referent design, where also overall survival was assessed. A significant association for increased risk of AML was found for TERT SNVs, rs2853669 (OR = 2.45, p = 0.00015) and rs2736100 (OR = 1.5, p = 0.03). The overall survival for patients with CC genotype of rs2853669 was significantly shorter compared to those with TT or TC genotypes (p = 0.036 and 0.029 respectively). The influence of TERT rs2853669 CC on survival was confirmed in multivariable Cox regression analysis as an independent risk biomarker in addition to high risk group, higher age and treatment. No hot spot TERT promoter mutations at -228C>T or -250C>T or POT1 mutations could be identified in this AML cohort. We show that rs2853669 CC may be a risk factor for the development of AML that may also be used as a prognostic marker to identify high risk normal karyotype -AML (NK-AML) patients, for treatment guidance.

Place, publisher, year, edition, pages
2015. Vol. 6, no 28, 25109-25120 p.
Keyword [en]
TERT, SNV, AML, prognostic markers
National Category
Cancer and Oncology Medical Genetics
URN: urn:nbn:se:uu:diva-267332ISI: 000363160100047PubMedID: 26298771OAI: oai:DiVA.org:uu-267332DiVA: diva2:873639
Swedish Research CouncilSwedish Cancer SocietyAFA Insurance
Available from: 2015-11-24 Created: 2015-11-20 Last updated: 2015-11-24Bibliographically approved

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