title: TET2, ASXL1, IDH1, and IDH2 Single Nucleotide Polymorphisms in Turkish Patients with Chronic Myeloproliferative Neoplasms.
abstract: We aimed to determine the genotype distribution, allele frequency, and prognostic impact of IDH1/2, TET2, and ASXL1 single nucleotide polymorphisms (SNPs) in myeloproliferative neoplasms (MPNs). TET2 (rs763480), ASXL1 (rs2208131), and IDH1 (rs11554137) variant homozygous genotype frequencies were found at rates of 1.5%, 9.2%, and 2.3%, respectively. No IDH2 SNP was identified. IDH1 and TET2 frequencies were 5% in essential thrombocythemia (ET) and 1.7% in ET and 5% in primary myelofibrosis (PMF), respectively. ASXL1 frequencies were 8.3%-10% in MPN subgroups. The TET2 mutant allele T and ASXL1 mutant allele G had the highest frequencies with 0.272 in the PMF and 0.322 in the polycythemia vera (PV) group, respectively. There was no impact of the SNPs on prognosis. IDH1 frequency in MPNs was found similar to the literature. ASXL1 frequencies were similar between ET, PV, and PMF patients. The ASXL1 and TET2 allele frequencies of the Turkish population are similar to those of the European population. The role of SNPs in MPNs might be further evaluated in larger multicenter studies.
authors.affiliation: Ege University Faculty of Medicine, Department of Hematology, İzmir, Turkey Phone: +90 232 390 35 18 E-mail: drakadnur@yahoo.com.
authors.forename: Nur
authors.initials: N
authors.lastname: Soyer
authors.forename: Burçin
authors.initials: B
authors.lastname: Tezcanlı Kaymaz
authors.forename: Melda
authors.initials: M
authors.lastname: Cömert Özkan
authors.forename: Çağdaş
authors.initials: Ç
authors.lastname: Aktan
authors.forename: Ali Şahin
authors.initials: AŞ
authors.lastname: Küçükaslan
authors.forename: Fahri
authors.initials: F
authors.lastname: Şahin
authors.forename: Buket
authors.initials: B
authors.lastname: Kosova
authors.forename: Güray
authors.initials: G
authors.lastname: Saydam
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002908:Chronic Disease; D004268:DNA-Binding Proteins / Q000235:genetics*; D049308:Dioxygenases; D018572:Disease-Free Survival; D005260:Female; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics / Q000401:mortality; D020641:Polymorphism, Single Nucleotide; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D015996:Survival Rate; D014421:Turkey / Q000453:epidemiology
chemical_list: C473949:ASXL1 protein, human; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; D049308:Dioxygenases; C541081:TET2 protein, human