Cowden syndrome

Cowden syndrome is a rare multisystem disease that is part of the group of pathologies called PTHS (PTEN tumor hamartoma syndrome). Cowden syndrome is characterized by an increased predisposition to develop benign tumor growths, known as hamartoma, as well as an increased predisposition to certain malignant tumors.

Cowden syndrome (CS) is an autosomal dominantly inherited disorder caused by mutations in the PTEN gene that increases the predisposition to overgrowth of benign tissues, known as hamartomas. It usually affects the skin, colon and thyroid (Hashimoto`s thyroiditis).

The syndrome also increases the likelihood of developing malignancies, especially breast, thyroid and endometrial cancer. The broad spectrum of manifestations ranges from dermatological diseases to neurodevelopmental disorders.


The clinical manifestations of patients with mutations in the PTEN gene responsible for this syndrome are variable, even in patients from the same family with the same mutation. Mutations in PTEN that cause an afunctional protein to be produced appear to contribute to more severe symptoms.

The main diagnostic criteria include:

- Early onset breast cancer (38-50 years) which is the main malignancy in Cowden syndrome.

- Thyroid carcinoma.

- Lhermitte-Duclos disease (gangliocytoma of the cerebellum).

- Macrocephaly (head circumference greater than usual).

Disease management

Cancer screening in patients with Cowden syndrome can help control benign neoplasms. Breast, thyroid and skin cancers are screened periodically.

Genes analyzed



Chow JT, Salmena L . Recent advances in PTEN signaling axes in cancer. Fac Rev. 2020 Dec 23;9:31.

Dragoo DD, Taher A, Wong VK, et al . PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy. Cancers (Basel). 2021 Jun 22;13(13):3120.

Garofola C, Jamal Z, Gross GP. Cowden Disease. 2021 Jul 28. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-.

Lobo GP, Waite KA, Planchon Smet al. Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function. Hum Mol Genet. 2009 Aug 1;18(15):2851-62.

Mester J, Eng C . Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. J Surg Oncol. 2015 Jan;111(1):125-30.

Pilarski R, Burt R, Kohlman W, et al . Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16.

Pilarski R. PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers (Basel). 2019 Jun 18;11(6):844.

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