PTEN hamartoma tumor syndrome

Definition:

PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders associated with the formation of hamartomas caused by mutations of the tumor suppressor PTEN. The hamartomas tend to be both benign and malignant tumors, especially in Cowden syndrome.

References:

[1]. Charis Eng, et al. PTEN: one gene, many syndromes. Hum Mutat. 2003 Sep;22(3):183-98. [Content Brief]

[2]. Judith A Hobert, et al. PTEN hamartoma tumor syndrome: an overview. Genet Med. 2009 Oct;11(10):687-94. [Content Brief]

[3]. Qing K Wang, et al. Update on the molecular genetics of vascular anomalies. Lymphat Res Biol. 2005;3(4):226-33. [Content Brief]

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