Variable expressivity and novel PTEN mutations in Cowden syndrome

Publication date: Available online 7 September 2018

Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Author(s): Renato Assis Machado, Lívia Maris Ribeiro Paranaíba, Luciane Martins, Mário Rodrigues Melo-Filho, Thays Teixeira de Souza, Bruna Lavinas Sayed Picciani, Geraldo Oliveira Silva-Junior, Marília Heffer Cantisano, Breno Amaral Rocha, Fábio Ramoa Pires, Ricardo D. Coletta

Abstract

Cowden syndrome (CS) is a PTEN-associated condition characterized by multiple mucocutaneous hamartomas and an increased risk of malignancies. We reported an isolated case and one family with several individuals affected by CS. The isolated case showed typical features including fibrocystic breast disease, benign thyroid nodules and multiple papillomatous lesions in the face and oral cavity and was caused by a novel nonsense mutation (c.940G>T) in PTEN. In the family, the proband showed erythema nodosum, duodenal ulcer, intestinal polyps, cervical lipoma, renal cysts and glaucoma, whereas her family revealed multiple members with intestinal polyps and a sister with breast cancer diagnosed at early age. An intronic mutation was found (c.1026+32T>G) in this family, with in silico analysis revealing the creation of a new donor splice site. This study confirms the involvement of PTEN in CS and reinforces the variable clinical expressivity of disease.

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