Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations

We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations. Only one of the families conformed to the criteria of Li–Fraumeni syndrome and only three (including the Li–Fraumeni syndrome family) met the Chompret criteria for germl...

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Bibliographic Details
Published in:European journal of cancer (1990) 2005-07, Vol.41 (11), p.1597-1603
Main Authors: Krutilkova, Vera, Trkova, Marie, Fleitz, Julie, Gregor, Vladimir, Novotna, Kamila, Krepelova, Anna, Sumerauer, David, Kodet, Roman, Siruckova, Simona, Plevova, Pavlina, Bendova, Sarka, Hedvicakova, Petra, Foreman, Nicholas K., Sedlacek, Zdenek
Format: Article
Language:English
Subjects:
Adolescent
Adult
Amino Acid Sequence - genetics
Biological and medical sciences
Child
Childhood brain tumours
Choroid plexus carcinoma
Choroid Plexus Neoplasms - genetics
Female
Genes, p53 - genetics
Genetic counselling
Germ-Line Mutation - genetics
Humans
Li–Fraumeni syndrome
Male
Medical sciences
Mutation, Missense - genetics
Pedigree
Pharmacology. Drug treatments
TP53 germline mutations
Tumors
Turner syndrome
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Summary:We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations. Only one of the families conformed to the criteria of Li–Fraumeni syndrome and only three (including the Li–Fraumeni syndrome family) met the Chompret criteria for germline TP53 mutation testing. In the remaining two families no family history of cancer was identified and/or the parents of the patient were shown not to carry the mutation. Our results give further support to the notion that the occurrence of this rare paediatric tumour, especially in combination with a positive family history of cancer, but possibly also without any family history, may be an indicator of a germline TP53 mutation. The identification of this genetic defect has important consequences for cancer prevention and treatment in affected families.
ISSN:0959-8049
1879-0852
DOI:10.1016/j.ejca.2005.01.026