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Hongzhe Li, Ph.D. Using a genome-wide association study, NIEHS-funded researchers at the University of Pennsylvania, identified an association between neuroblastoma and three common single nucleotide polymorphisms. Homozygosity for the most significantly associated polymorphism increased the risk of neuroblastoma two-fold. Neuroblastoma is the most common cancer in infancy, with an annual incidence of about 650 new cases per year in the US. About half of neuroblastoma cases occur in children younger than two years old. It is a neuroendocrine cancer arising from any neural crest element of the sympathetic nervous system. Solid tumors, which take the form of a lump or mass, commonly begin in one of the adrenal glands, though they can also develop in nerve tissues in the neck, chest, abdomen, or pelvis. The cause of neuroblastoma is unknown, though most physicians believe that it is a result of accidental cell growth that occurs during normal development of the adrenal glands. A genome-wide association study is an examination of genetic variation across the human genome, designed to identify genetic associations with observable traits, such as blood pressure or weight, or why some people get a disease or condition. Additional results from the study show that children who were homozygous for the three identified polymorphisms were more likely to have metastatic disease and disease relapse. The polymorphisms could be used to identify children at risk for neuroblastoma or those who are likely to have a poor prognosis and therefore may need more aggressive treatment. Citation: Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole KA, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SF, Li H, Hakonarson H. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med. 2008 Jun 12;358(24):2585-93 |
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