Cowden syndrome, or multiple hamartomatous tumor syndrome, in clinical endocrinology

Annales d'endocrinologie
M SardinouxJ Bringer

Abstract

Cowden syndrome (CS) is the prototypic PTEN hamartoma tumor syndromes (PHTS), rare clinical syndromes characterized by germline mutations of the tumor suppressor PTEN. CS is characterized by association of macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, with increased risk for breast, thyroid and endometrial cancer. PTEN, which is located on chromosome 10q23, regulates negatively the prosurvival PI3K/Akt/mTOR pathway through a lipid phosphatase activity. Loss of PTEN activates this pathway and leads to increased cellular growth, migration, proliferation, and survival. CS diagnosis is clinical, based on the association of pathognomonic, major and minor criteria. The association in a patient with thyroid cancer, rarely with multinodular goiter, of typical dermatological manifestations, easily identifiable by clinical examination (papillomatous papules, acral keratoses, trichilemmomas), with a history of breast, endometrial, or renal cancer, or hamartomatous tumors presence, should alert the clinician. Clinical management of patients with CS is multidisciplinary, to include early and frequent screening, surveillance, and preventive care for associated malignancies. The development of antineoplastic age...Continue Reading

References

May 1, 1996·Nature Genetics·M R NelenC Eng
Aug 1, 1997·Human Molecular Genetics·M R NelenH Kremer
Feb 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·K PodsypaninaR Parsons
Jul 16, 2004·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Isabelle Sansal, William R Sellers
Mar 31, 2007·International Journal of Clinical Practice·S UppalA P Coatesworth
Jul 24, 2007·Critical Reviews in Oncology/hematology·Jaclyn LopiccoloPhillip A Dennis
Oct 9, 2007·Seminars in Oncology·Shanna GustafsonCharis Eng
Jan 2, 2008·Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy·Jaclyn LoPiccoloPhillip A Dennis
Sep 11, 2008·European Journal of Human Genetics : EJHG·Gideon M Blumenthal, Phillip A Dennis
Oct 7, 2008·World Journal of Gastroenterology : WJG·Ken UmemuraTooru Shimosegawa
Aug 12, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Judith A Hobert, Charis Eng
Aug 13, 2009·World Journal of Gastroenterology : WJG·Lynette S PhillipsLi Li

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Citations

Mar 7, 2017·Annales d'endocrinologie·Pauline DelannoyHernan Valdes-Socin

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