Risk-Reducing Genetic Variant of Wilms Tumor 1 Gene rs16754 in Korean Patients With BCR-ABL1-Negative Myeloproliferative Neoplasm.
The genetic variant rs16754 of Wilms tumor gene 1 (WT1) has recently been described as an independent prognostic factor in AML patients. It is of great interest to test whether WT1 single nucleotide polymorphism can be used as a molecular marker in other types of cancer, to improve risk and treatment stratification. We performed sequencing analysis of exons 7 and 9 of WT1, which are known mutational hotspots, in a total of 73 patients with BCR-ABL1-negative myeloproliferative neoplasm (MPN) and 93 healthy controls. No previously reported WT1 mutations were identified in the present study. In Korean patients with BCR-ABL1-negative MPN, WT1 genetic variant rs16754 had no significant impact on clinical outcomes. We observed a significant difference in the allelic frequencies of WT1 rs16754 in Koreans between BCR-ABL1-negative MPN cases and healthy controls. Individuals carrying variant G alleles of WT1 rs16754 showed a relatively low prevalence of BCR-ABL1-negative MPN, compared with those carrying wild A alleles of WT1 rs16754 (Hazard ratio 0.10-0.65, P<0.05). Therefore, possession of the variant G allele of WT1 rs16754 may reduce the risk of developing BCR-ABL1-negative MPN.
Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea.
Namhee
N
Kim
Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea.
In-Suk
IS
Kim
Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea.
Chulhun L
CL
Chang
Department of Laboratory Medicine, Jinhae Yonsei Hospital, Changwon, Korea.
Jeong-Eun
JE
Kang
Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea.
Eun Yup
EY
Lee
Department of Internal Medicine, Division of Hematology-Oncology, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea.
Ho-Jin
HJ
Shin
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D016016:Proportional Hazards Models; D056910:Republic of Korea; D012306:Risk; D017422:Sequence Analysis, DNA; D025721:WT1 Proteins / Q000235:genetics*; D055815:Young Adult
C581634:BCR-ABL1 fusion protein, human; D025721:WT1 Proteins; C583751:WT1 protein, human; D016044:Fusion Proteins, bcr-abl
Myeloproliferative neoplasm; WT1; rs16754