Chromosome 6p22 Locus Associated with Clinically Aggressive Neuroblastoma

• Published in: The New England journal of medicine Vol. 358; no. 24; pp. 2585 - 2593
• Main Authors: Maris, John M, Mosse, Yael P, Bradfield, Jonathan P, Hou, Cuiping, Monni, Stefano, Scott, Richard H, Asgharzadeh, Shahab, Attiyeh, Edward F, Diskin, Sharon J, Laudenslager, Marci, Winter, Cynthia, Cole, Kristina A, Glessner, Joseph T, Kim, Cecilia, Frackelton, Edward C, Casalunovo, Tracy, Eckert, Andrew W, Capasso, Mario, Rappaport, Eric F, McConville, Carmel, London, Wendy B, Seeger, Robert C, Rahman, Nazneen, Devoto, Marcella, Grant, Struan F.A, Li, Hongzhe, Hakonarson, Hakon
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 12.06.2008
• Subjects: Alleles; Biological and medical sciences; Case-Control Studies; Cell Transformation, Neoplastic - genetics; Child, Preschool; Children & youth; Chromosomes, Human, Pair 6 - genetics; Disease-Free Survival; Female; General aspects; Genetic Predisposition to Disease; Genetic testing; Genotype; Health care networks; Homozygote; Humans; Infant; Male; Medical sciences; N-Myc Proto-Oncogene Protein; Neoplasm Staging; Neuroblastoma - genetics; Neuroblastoma - pathology; Neurology; Nuclear Proteins - genetics; Oncogene Proteins - genetics; Polymorphism, Single Nucleotide; Tumors; Tumors of the nervous system. Phacomatoses; Medicine; Nervous system diseases; Association; Genetics; Malignant tumor; Chromosome C6; Neuroblastoma; Autonomic neuropathy; Locus; Cancer; High malignancy
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa0708698

Somatic characteristics of neuroblastoma tumors — such as MYCN amplification — are associated with more aggressive disease. This report shows that persons who inherit variants on chromosome 6p22 are more susceptible to the development of the disease than those who do not inherit these variants. This report shows that persons who inherit variants on chromosome 6p22 are more susceptible to the development of neuroblastoma than those who do not inherit these variants. Despite marked improvements in the cure rates for many childhood cancers, neuroblastoma remains an important clinical problem, accounting for 15% of the deaths attributable to malignant conditions in children. 1 It is the most common solid cancer of early childhood, and approximately half of all patients with neuroblastoma present with widely disseminated disease that is often refractory to intensive chemoradiotherapy. Cure rates among these high-risk patients remain less than 40%, despite dramatic increases in the intensity of chemoradiotherapy, and survivors often have serious lifelong coexisting conditions. 2 – 4 Somatically acquired genomic aberrations in neuroblastoma are of fundamental importance for predicting the tumor . . .