title: Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients with acute myeloid leukemia (AML).
abstract: This study aimed to evaluate the incidence and clinical and prognostic impact of TERT A1062T mutation in AML patients treated at Mansoura Oncology Center. Screening for TERT A1062T mutation in exon 15 of the TERT gene was performed on diagnostic DNA samples from 153 AML patients and 197 healthy subjects as a control group by using sequence-specific primers. TERT A1062T mutation was detected in 18 cases out of 153 patients (11.8 %) and in one out of 197 control group subjects (0.51 %). The achievement of complete remission was significantly higher in AML group with wild type as compared to that in the mutant one (53.3 vs 16.7 %, respectively). In addition, the relapse rate was significantly higher in the mutant patients as compared to those with wild type (62.5 vs 28.2 %, respectively). The AML patients with TERT (A1062T) mutation had shorter overall survival than patients with wild type (P = 0.001). In a multivariable analysis, TERT (A1062T) mutational status is independently worse predictor factor (P = 0.007) when controlling for cytogenetic status (P = <0.001), performance status (P = <0.001) and bone marrow blast cells (P = 0.001). In conclusion, TERT A1062T mutation is an independent negative prognostic factor in AML patients. Therefore, molecular testing for TERT A1062T mutation in patients with AML is recommended in order to delineate their prognostic status.
authors.affiliation: Hematology Unit, Clinical Pathology Department, Mansoura Faculty of Medicine, Mansoura, Egypt, Salaharef@yahoo.com.
authors.forename: Salah
authors.initials: S
authors.lastname: Aref
authors.forename: Mohamed Sabry
authors.initials: MS
authors.lastname: El-Ghonemy
authors.forename: Tarek Elsayed
authors.initials: TE
authors.lastname: Abouzeid
authors.forename: Amr Mohamed
authors.initials: AM
authors.lastname: El-Sabbagh
authors.forename: Mohamed Ali
authors.initials: MA
authors.lastname: El-Baiomy
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015331:Cohort Studies; D004534:Egypt / Q000453:epidemiology; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D011379:Prognosis; D012008:Recurrence; D016019:Survival Analysis; D019098:Telomerase / Q000235:genetics*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D019098:Telomerase
references.citation: Cell. 2001 Sep 21;106(6):661-73
references.pmid: 11572773
references.citation: Prague Med Rep. 2010;111(2):91-105
references.pmid: 20653999
references.citation: Nat Genet. 2004 May;36(5):447-9
references.pmid: 15098033
references.citation: Blood. 2009 May 7;113(19):4505-11
references.pmid: 19221039
references.citation: Blood. 2008 Feb 1;111(3):1567-74
references.pmid: 17967943
references.citation: Cold Spring Harb Symp Quant Biol. 2005;70:197-204
references.pmid: 16869754
references.citation: N Engl J Med. 2005 Apr 7;352(14):1413-24
references.pmid: 15814878
references.citation: Cell. 1999 Mar 5;96(5):701-12
references.pmid: 10089885
references.citation: Leuk Lymphoma. 2001 Jul;42(3):291-9
references.pmid: 11699393
references.citation: Cancer Treat Res. 2004;121:45-67
references.pmid: 15217206
references.citation: Proc Natl Acad Sci U S A. 2009 Jan 27;106(4):1187-92
references.pmid: 19147845
references.citation: Nature. 2000 Aug 10;406(6796):641-5
references.pmid: 10949306
references.citation: Leuk Res. 2013 Oct;37(10):1359-62
references.pmid: 23896060
references.citation: Blood. 2009 Jun 4;113(23):5696-7
references.pmid: 19498026
references.citation: Leukemia. 2013 Aug;27(8):1786-9
references.pmid: 23426163
references.citation: Blood. 2008 Feb 15;111(4):1759-66
references.pmid: 18263784
references.citation: J Egypt Natl Canc Inst. 2009 Mar;21(1):71-6
references.pmid: 20601973