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

The spectrum and frequency of cancers associated with germline TP53 mutations are uncertain. To address this issue a cohort of individuals from 28 families with Li-Fraumeni syndrome, segregating germline TP53 mutations was established. Predicted cancers were estimated by applying age, morphology, site and sex-specific UK cancer statistics to person-years at risk. Observed and predicted cancers were compared and two-sided P-values calculated. Cancer types occurring to excess and showing P-values <0.02, were designated strongly associated with germline TP53 mutations. These were removed from the data and a second round of analyses performed. Cancer types with P-values <0.02 and 0.02-0.05 in the second round analyses were considered moderately and weakly associated respectively. Strongly associated cancers were: breast carcinoma, soft tissue sarcomas, osteosarcoma, brain tumours, adrenocortical carcinoma, Wilms' tumour and phyllodes tumour. Carcinoma of pancreas was moderately associated. Leukaemia and neuroblastoma were weakly associated. Other common carcinomas including lung, colon, bladder, prostate, cervix and ovary did not occur to excess. Although breast carcinoma and sarcomas were numerically most frequent, the greatest increases relative to general population rates were in adrenocortical carcinoma and phyllodes tumour. We conclude that germline TP53 mutations do not simply increase general cancer risk. There are tissue-specific effects.
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PMID:Relative frequency and morphology of cancers in carriers of germline TP53 mutations. 1149 85

Intraductal tubulopapillary neoplasms (ITPNs) are rare pancreatic neoplasms accounting for ~0.4% of pancreatic tumors. However, their clinicopathological characteristics have not been clearly determined and the number of available clinical studies on this type of tumor is limited at present. Due to the rare incidence of ITPN, diagnosis is often delayed. We herein present a unique case of a 38-year-old man who was diagnosed with ITPN accompanied with invasive carcinoma of the pancreas and underwent total pancreatectomy. The morphological characteristics of ITPN include closely packed tubular glands, without mucin secretion, accompanied with invasion of the loose connective tissue. The immunohistochemical staining suggested that the tumors did not originate from the gastrointestinal tract but rather from the bile duct. In addition, the Ki-67 positive staining rate of tumor cells was <20%. The microsatellite instability analysis demonstrated microsatellite stability, without detected gene mutations of epidermal growth factor receptor, Kirsten rat sarcoma viral oncogene homolog, neuroblastoma RAS viral oncogene homolog or B-Raf proto-oncogene. However, a mutation was identified in exon 9 of the P53 gene, the most frequently mutated gene in human cancer, which suggested the underlying mechanism of ITPN. On the basis of this case, the aim of this study was to summarize and review the relevant reports of ITPNs in recent years, in order to investigate the clinicopathological characteristics and differential diagnosis of ITPN.
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PMID:Intraductal tubulopapillary neoplasm accompanied by invasive carcinoma of the pancreas: A case report and review of the literature. 2852 42