[MIM 276 300]

(Brain tumor-polyposis type 2)

Autosomal dominant transmission. Syndrome combining neuroepithelial tumors of the central nervous system, a familial adenomatous polyposis (see Gardner syndrome) and a congenital hypertrophy of the retinal pigmentar epithelium.

Two forms depending on the type of brain tumor:

-        glioblastoma; clinical onset in late adolescence; colorectal cancer predisposition. Germinal anomaly of the hMLH1 or hMSH2 genes

-        medulloblastoma: mutation in the APC gene.

Anesthetic implications:

No special precautions.

References : 

-         Abadie C, Gauthier-Villars M, Sirvent N, Coupier I. 
Oncogénétique en oncopédiatrie. 
Arch Pédiatr 2012 ; 19 : 863-75

Updated: September 2018