Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome.
Turcot's syndrome is a rare heritable complex that is characterized by an association between a primary neuroepithelial tumor of the central nervous system and multiple colonic polyps. The aim of this study was to analyze genetic alterations in a case of Turcot's syndrome in a 10.5-year-old boy in whom a colorectal tumor developed 3.5 years following astrocytoma. An APC germline non-sense mutation at codon 1284 leading to a truncated protein was identified, as was a somatic p53 mutation in the colorectal carcinoma in exon 7, codon 244. The latter was not identified in the primary astrocytoma. However, immunohistochemistry revealed high p53 protein expression in both tumors, suggesting an additional p53 mutation in the primary astrocytic tumor. The diverse p53 mutations observed in this unique syndrome in two different sites and stages of the disease may shed light on the multistep progression of the malignant events.
Barel
D
D
Cancer Molecular Genetics, Felsenstein Medical Research Center, Petah Tiqva, Israel.
Cohen
I J
IJ
Mor
C
C
Stern
S
S
Shapiro
R
R
Shomrat
R
R
Galanti
Y
Y
Legum
C
C
Zaizov
R
R
Avigad
S
S
D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D001254:Astrocytoma / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D002648:Child; D015179:Colorectal Neoplasms / Q000150:complications / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D017809:Fatal Outcome; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013577:Syndrome; D016159:Tumor Suppressor Protein p53 / Q000032:analysis
D004273:DNA, Neoplasm; D016159:Tumor Suppressor Protein p53