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
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Bu çalışmada biz ASXL1, TET2, IDH1/2 genlerindeki tek nükleotid polimorifizmlerin (SNP) alel sıklığını, genotipik dağılımını ve prognostik etkisini saptamayı amaçladık. TET2 (rs763480), ASXL1 (rs2208131) ve IDH1 (rs11554137) varyant homozigot genotip sıklığı sırasıyla %1,5, %9,2 ve %2,3 saptandı. IDH2 SNP saptanmadı. IDH1 sıklığı ET'de %5 ve TET2 sıklığı ET'de %1,7 ve PMF'te %5 idi. ASXL1 sıklığı ise MPN alt gruplarında %8,3-10'du. En yüksek TET2 mutant allel T ve ASXL mutant allel G sıklığı sırasıyla PMF'te 0,272 ve PV'de 0,322 olarak saptandı. SNP'lerin prognoz üzerine etkisi yoktu. MPN'de IDH1 sıklığı literatür ile uyumlu bulundu. ASXL1 sıklığı PV, PMF ve ET alt gruplarında benzerdi. Türklerde ASXL1 ve TET2 allel sıklığı Avrupalılar ile benzer saptandı. MPN'lerde SNP'lerin rolü, büyük ve çok merkezli çalışmalarda değerlendirilmelidir.
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.
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.
Açıklama
Anahtar Kelimeler
Hematoloji
Kaynak
Turkish Journal of Hematology
WoS Q Değeri
Scopus Q Değeri
Cilt
34
Sayı
2
