Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cells from 102 nasopharyngeal biopsies of patients suspected of Nasopharyngeal Carcinoma (NPC) and family members of NPC patients were cultured. Metaphases were successfully obtained from 74 of the biopsies of which 52 were subsequently histologically confirmed to be NPC. Cytogenetical analysis using Q-banding showed abnormalities in 15 cultures, and these included polyploidy, aneuploidy and marker chromosomes. Of the 15 abnormal cultures, 14 were from confirmed NPC patients and in five of these, a consistent 5q+ abnormally was seen involving 5q31. The only other abnormal chromosome changes seen was in a patient with olfactory neuroblastoma.
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PMID:A cytogenetic study of 74 nasopharyngeal carcinoma biopsies. 178 41

Copy number variations (CNVs), a major source of human genetic polymorphism, have been suggested to have an important role in genetic susceptibility to common diseases such as cancer, immune diseases and neurological disorders. Nasopharyngeal carcinoma (NPC) is a multifactorial tumor closely associated with genetic background and with a male preponderance over female (3:1). Previous genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) that are associated with NPC susceptibility. Here, we sought to explore the possible association of CNVs with NPC predisposition. Utilizing genome-wide SNP-based arrays and five CNV-prediction algorithms, we identified eight regions with CNV that were significantly overrepresented in NPC patients compared with healthy controls. These CNVs included six deletions (on chromosomes 3, 6, 7, 8 and 19), and two duplications (on chromosomes 7 and 12). Among them, the CNV located at chromosome 6p21.3, with single-copy deletion of the MICA and HCP5 genes, showed the highest association with NPC. Interestingly, it was more specifically associated with an increased NPC risk among males. This gender-specific association was replicated in an independent case-control sample using a self-established deletion-specific polymerase chain reaction strategy. To the best of our knowledge, this is the first study to explore the role of constitutional CNVs in NPC, using a genome-wide platform. Moreover, we identified eight novel candidate regions with CNV that merit future investigation, and our results suggest that similar to neuroblastoma and prostate cancer, genetic structural variations might contribute to NPC predisposition.
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PMID:A gender-specific association of CNV at 6p21.3 with NPC susceptibility. 2153 88