TET2, ASXL1, IDH1, and IDH2 single nucleotide polymorphisms in turkish patients with chronic myeloproliferative neoplasms [Kronik miyeloproliferatif neoplazi tanılı Türk Hastalarda TET2, ASXL1, IDH1 ve IDH2 tek nükleotid polimorfizmleri]
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish Society of Hematology
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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. © 2017 by Turkish Society of Hematology.
Açıklama
Anahtar Kelimeler
ASXL1, IDH1, IDH2, Ph-negative myeloproliferative neoplasms, Single nucleotide polymorphisms, TET2
Kaynak
Turkish Journal of Hematology
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
34
Sayı
2
