Ann Lab Med.  2015 May;35(3):348-351. 10.3343/alm.2015.35.3.348.

Risk-Reducing Genetic Variant of Wilms Tumor 1 Gene rs16754 in Korean Patients With BCR-ABL1-Negative Myeloproliferative Neoplasm

• Kim N
• Kim IS
• Chang CL
• Kang JE
• Lee EY
• Shin HJ

• KMID: 2363208
• DOI: http://doi.org/10.3343/alm.2015.35.3.348

Abstract

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.

Keyword

Myeloproliferative neoplasm; WT1; rs16754

MeSH Terms

Adult
Aged
Aged, 80 and over
Alleles
Asian Continental Ancestry Group/*genetics
Case-Control Studies
Exons
Female
Fusion Proteins, bcr-abl/genetics
Gene Frequency
Genotype
Humans
Leukemia, Myeloid, Acute/pathology
Male
Middle Aged
Myeloproliferative Disorders/*genetics/pathology
Polymorphism, Single Nucleotide
Prognosis
Proportional Hazards Models
Republic of Korea
Risk
Sequence Analysis, DNA
WT1 Proteins/*genetics
Young Adult
Fusion Proteins, bcr-abl
WT1 Proteins

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