Genetic syndrome predisposing to multiple malignant tumors. Autosomal dominant transmission of mutations in the TP53 gene on 17q13.1. The new mutation rate varies between 7% and 20%. Penetrance is high but differs by gender: at the age of 16 years, the cumulative risk of tumour disease is 19% for girls and 12 % for boys.

The most frequently encountered tumours are:

-        adrenocortical carcinoma: very rare but should be looked for

-        hepatoblastoma

-        sarcomas: osteosarcoma, rhabdomyosarcoma

-        some brain tumors: glial tumor, medulloblastoma, choroid plexus Carcinoma

-        some leukemias: especially acute lymphoblastic

-        and in adulthood: breast cancer, leukemia,  lung bronchoalveolar carcinoma.

Avoid radiotherapy because these patients present a particular radiosensitivity.

The risk of breast cancer that occurs before menopause is very high thereby justifying annual monitoring from the age of 20 years, or even a prophylactic bilateral mastectomy.

Anesthetic implications:

according to the tumoral pathology; review the chemotherapy already received by the child:  cardiac, pulmonary, renal, medullary toxicity ?

References : 

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

Updated: January 2019