Neuroblastoma Associated with Genetic Variation

May 7, 2008

A genomewide association study links a genetic variation at chromosome band 6p22 with a susceptibility to neuroblastoma, the most common solid cancer of early childhood, according to research published online May 7 in the New England Journal of Medicine.

WEDNESDAY, May 7 (HealthDay News) -- A genomewide association study links a genetic variation at chromosome band 6p22 with a susceptibility to neuroblastoma, the most common solid cancer of early childhood, according to research published online May 7 in the New England Journal of Medicine.

John M. Maris, M.D., of the Children's Hospital of Philadelphia, and colleagues genotyped blood DNA samples from 1,032 patients and 2,043 control subjects in a discovery-phase case series, then replicated significant associations using three groups of neuroblastoma patients and 2,128 control subjects.

The researchers found a significant association between the disease and the common minor alleles of three single-nucleotide polymorphisms (SNPs) at chromosome band 6p22, containing the predicted overlapping genes FLJ22536 and FLJ44180. Patients who were homozygous for the risk alleles at 6p22 were more likely to have metastatic disease, relapse of disease, and amplification of the MYCN oncogene in tumor cells.

"Laboratory research may…be crucial for helping to integrate the chromosome 6p22 variants into the clinical and biologic phenomena that characterize this enigmatic disease. Learning about the functions of the new candidate predisposing genes, FLJ22536 and FLJ44180 (the genes associated with the implicated SNPs at 6p22), and how they may influence susceptibility is an exciting prospect," write Brian H. Kushner, M.D., and Nai-Kong V. Cheung, M.D., Ph.D., of the Memorial Sloan-Kettering Cancer Center in New York City, in an accompanying editorial.

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