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 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.
Krutilkova
Vera
V
Institute of Biology and Medical Genetics, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.
Trkova
Marie
M
Fleitz
Julie
J
Gregor
Vladimir
V
Novotna
Kamila
K
Krepelova
Anna
A
Sumerauer
David
D
Kodet
Roman
R
Siruckova
Simona
S
Plevova
Pavlina
P
Bendova
Sarka
S
Hedvicakova
Petra
P
Foreman
Nicholas K
NK
Sedlacek
Zdenek
Z
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D002648:Child; D016545:Choroid Plexus Neoplasms / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree