title: A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor.
abstract: A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition.
authors.affiliation: Department of Pediatrics, Skejby Hospital, Aarhus University, Aarhus, Denmark.
authors.forename: Chalotte W
authors.initials: CW
authors.lastname: Stecher
authors.forename: Kirsten
authors.initials: K
authors.lastname: Grønbaek
authors.forename: Henrik
authors.initials: H
authors.lastname: Hasle
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002648:Child; D003131:Combined Modality Therapy; D016371:Cranial Irradiation; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D016158:Genes, p53; D006801:Humans; D007231:Infant, Newborn; D007984:Leydig Cell Tumor / Q000151:congenital / Q000235:genetics* / Q000601:surgery; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D018242:Neuroectodermal Tumors, Primitive / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy / Q000601:surgery; D009919:Orchiectomy; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*; D016634:Radiosurgery; D015173:Supratentorial Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy / Q000601:surgery; D013736:Testicular Neoplasms / Q000151:congenital / Q000235:genetics* / Q000601:surgery
chemical_list: D022821:RNA Splice Sites