Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers.

[en] Li-Fraumeni syndrome is a rare autosomal dominant cancer-prone condition characterized by the occurrence of a large set of different types of cancer in a patient and their family. A germline disease-causing mutation of the gene encoding the p53 protein is associated with the syndrome. We report on a family in which segregation of a TP53 mutation in two generations was associated with two brain tumours, a leiomyosarcoma and a thyroid carcinoma in four male patients. The main patient presented with seizures revealing several primary brain tumours. We review recent views on its molecular basis and discuss management of the condition as well as a review of the literature.

Disciplines :

Surgery

Author, co-author :

Lechien, JR

Brotchi, Jacques

Van Maldergem, L

COSTA DE ARAUJO, Pedro ; Centre Hospitalier Universitaire de Liège - CHU > Autres Services Médicaux > Service d'ORL, d'audiophonologie et de chir. cervico-faciale

Bruninx, G

Hilbert, P

Nubourgh, Y

Language :

English

Title :

Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers.

Publication date :

2014

Journal title :

Neuro-Chirurgie

ISSN :

0028-3770

Publisher :

Elsevier Masson, Paris, France

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 28 July 2018

Statistics

Number of views

57 (2 by ULiège)

Number of downloads

2 (2 by ULiège)

More statistics

Scopus citations^®

Scopus citations^®
without self-citations

OpenCitations

Bibliography

Chompret A., Brugières L., Ronsin M., Gardes M., Dessarps-Freichey F., Abel A., et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000, 82(12):1932-1937.
Chompret A., Abel A., Stoppa-Lyonnet D., Brugiéres L., Pagés S., Feunteun J., et al. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 2001, 38:43-47.
Birch J.M., Hartley A.L., Tricker K.J., Prosser J., Condie A., Kelsey A.M., et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994, 54(5):1298-1304.
Ariffin H., Martel-Planche G., Daud S.S., Ibrahim K., Hainaut P. Li-Fraumeni syndrome in a Malaysian kindred. Cancer Genet Cytogenet 2008, 186(1):49-53.
Watanabe T., Vital A., Nobusawa S., Kleihues P., Ohgaki H. Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. Acta Neuropathol 2002, 117(6):653-656.
Martin S., Vallette F. Apoptosis and pathologies of the central nervous system. Neurochirurgie 2000, 46(4):370-375.
Wong K.B., DeDecker B.S., Freund S.M., Proctor M.R., Bycroft M., Fersht A.R. Hot-spot mutants of p53 core domain evince characteristic local structural changes. Proc Natl Acad Sci U S A 1999, 96(15):8438-8442.
Gonzalez K.D., Buzin C.H., Noltner K.A., Gu D., Li W., Malkin D., et al. High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet 2009, 46(10):689-693.
Hisada M., Garber J.E., Fung C.Y., Fraumeni J., Li F. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Institute 1998, 90:8.
Huusko P., Castrén K., Launonen V., Soini Y., Pääkkönen K., Leisti J., et al. Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2. Cancer Genet Cytogenet 1999, 112(1):9-14.
Frebourg T., Abel A., Bonaiti-Pellie C., Brugières L., Berthet P., Bressac-de Paillerets B., et al. Li Fraumeni syndrome: update, new data and guidelines for clinical management. Bull Cancer 2001, 88(6):581-587.