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 cytopathologic features of choroid plexus carcinoma in the cerebrospinal fluid of a 13-month-old male infant were reviewed and compared with those of other small-cell malignant neoplasms of childhood and young adulthood involving the central nervous system. The cytologic features of the choroid plexus carcinoma (tight spatial clusters and isolated anaplastic cells with striking nuclear lobulation) were distinct from those of lymphoma, leukemia, neuroblastoma, ependymoma and pineal germinoma. However, the cells had a striking resemblance to those of anaplastic ependymoma and metastatic adenocarcinoma.
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PMID:Choroid plexus carcinoma. Report of a case with cytopathologic differential diagnosis. 386 32

The high incidence of adrenocortical tumors and choroid plexus carcinoma in children from South and Southeastern regions of Brazil is associated with the germline p.R337H mutation of TP53 gene. The concomitant occurrence of neuroblastoma and adrenocortical tumors in pediatric patients harboring the p.R337H mutation at our institution prompted us to investigate the putative association between p.R337H and pediatric neuroblastoma. Genomic DNA samples from 83 neuroblastoma patients referred to a single institution during the period of 2000-2014 were screened for the p.R337H mutation. Available samples from carriers were investigated for both nuclear p53 accumulation and loss of heterozigosity in tumor. Clinical data were obtained from medical records in order to assess the impact of 337H allele on manifestation of the disease. Seven out 83 neuroblastoma patients (8.4%) were carriers of the TP53 p.R337H mutation in our cohort. Immunohistochemical analysis of p.R337H-positive tumors revealed nuclear p53 accumulation. Loss of heterozigosity was not found among available samples. The presence of 337H allele was associated with increased proportion of stage I tumors. Our data indicate that in addition to adrenocortical tumors, choroid plexus carcinoma, breast cancer and osteosarcoma, genetic counseling and clinical surveillance should consider neuroblastoma as a potential neoplasia affecting p.R337H carriers.
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PMID:Occurrence of Neuroblastoma among TP53 p.R337H Carriers. 2645 66