Acronym for PTEN Hamartoma Tumor Syndrome

This term defines a clinically heterogeneous group of disorders due to mutations of the PTEN gene (acronym for Phosphatase and TENsin homolog deleted on chromosome TEN) (10q23), a tumor suppressor gene coding for a phosphatase that negatively regulates the PI3KT-AKT pathway. The diseases or syndromes of Cowden, Bannayan-Riley-Ruvalcaba, Proteus and Proteus-like, as well as the SOLAMEN syndrome are part of it (see these terms). 

They manifest as hamartomas, excessive growth and a risk of tumors. The age of onset of early signs varies according to the disease.

Associated benign disorders are: macrocephaly (> 90%), cutaneomucous hamartomas, colonic polyps, benign pathologies of the thyroid (Hashimoto thyroiditis), and vascular malformations. 

The most frequent malignant tumors are, in terms of risk over the patient's lifespan: breast cancer (85 %), carcinoma of the thyroid (35 %, especially before the age of 18), carcinoma of the endometrium (28 %), of the kidney (32 %) and the colorectum (10 %).

Anesthetic implications:

according to associated tumor localization

References:

-        Longy M, Bubien V, Caux F, Lacombe D.
Syndromes avec prédisposition tumorale : syndrome de Gorlin et maladie de Cowden,
In Syndromes dysmorphiques, coordinateurs D Lacombe, N Philip, Progrès en Pédiatrie, Doin 2013, p 282-93.

-        Hay CY, Fechtner LC, Young PR.
PTEN hamartoma tumor syndrome presenting as a neck mass in a pediatric patient.
Int J Pediatr Otorhinolaryngol Extra 2018 ; 19 : 1-2.

Updated: October 2018