Have a personal or library account? Click to login
Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling Cover

Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling

Open Access
|Mar 2025

References

  1. Gammon A, Jasperson K, Champine M. Genetic basis of Cowden syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2016;9:83–92.
  2. Zeng N, Bayan JA, He L, Stiles B. The Role of PTEN in β-Cell Growth. Open Endocrinol J. 2010;4:23–32.
  3. Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997 May;16(1):64–7.
  4. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. 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.
  5. Takayama T, Muguruma N, Igarashi M, Ohsumi S, Oka S, Kakuta F, et al. Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults─Secondary Publication. J Anus Rectum Colon. 2023 Oct 25;7(4):284–300.
  6. Rademacher S, Eickholt BJ. PTEN in Autism and Neurodevelopmental Disorders. Cold Spring Harb Perspect Med. 2019 Nov 1;9(11):a036780.
  7. Cummings K, Watkins A, Jones C, Dias R, Welham A. Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics. J Neurodev Disord. 2022 Jan 4;14(1):1.
  8. Kieselova K, Santiago F, Henrique M, Cunha MF. Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome. BMJ Case Rep. 2017 Aug 28;2017:bcr2017221695, bcr-2017–221695.
  9. Lim A, Ngeow J. The Skin in Cowden Syndrome. Front Med (Lausanne). 2021;8:658842.
  10. Ponti G, Pellacani G, Seidenari S, Pollio A, Muscatello U, Tomasi A. Cancer-associated genoder-matoses: skin neoplasms as clues to hereditary tumor syndromes. Crit Rev Oncol Hematol. 2013 Mar;85(3):239–56.
  11. Caliskan A, Kohlmann WK, Affolter KE, Downs Kelly E, Kanth P, Bronner MP. Intramucosal lipomas of the colon implicate Cowden syndrome. Mod Pathol. 2018 Apr;31(4):643–51.
  12. Carneiro F. Familial and hereditary gastric cancer, an overview. Best Pract Res Clin Gastroenterol. 2022;58–59:101800.
  13. Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007 Sep;44(9):594–602.
  14. Yehia L, Keel E, Eng C. The Clinical Spectrum of PTEN Mutations. Annu Rev Med. 2020 Jan 27;71:103–16.
  15. Dragoo DD, Taher A, Wong VK, Elsaiey A, Consul N, Mahmoud HS, et al. PTEN Hamartoma Tumor Syn-drome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy. Cancers (Basel). 2021 Jun 22;13(13):3120.
  16. Kingdom R, Wright CF. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts. Front Genet. 2022 Jul 25;13:920390.
  17. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012 Jan 15;18(2):400–7.
  18. Higuchi D, Matsuura T, Takamine E, Hosokawa M, Kobori K, Ikeda S, et al. [Ovarian Carcinosarcoma Associated with Cowden Syndrome-A Case Report]. Gan To Kagaku Ryoho. 2022 Jul;49(7):783–7.
  19. Gupta S, Erickson LA. Renal Neoplasia in Cowden Syndrome. Mayo Clin Proc. 2020 Dec;95(12):2808–9.
  20. Sugihara T, Mandai M, Koda M, Matono T, Nagahara T, Ueki M, et al. Cowden syndrome complicated with hepatocellular carcinoma possibly originating from non-alcoholic steatohepatitis (NASH). Hepatol Res. 2011 Feb;41(2):189–93.
  21. Squarize CH, Castilho RM, Gutkind JS. Chemoprevention and treatment of experimental Cowden’s disease by mTOR inhibition with rapamycin. Cancer Res. 2008 Sep 1;68(17):7066–72.
  22. Teng QX, Ashar YV, Gupta P, Gadee E, Fan YF, Reznik SE, et al. Revisiting mTOR inhibitors as anticancer agents. Drug Discov Today. 2019 Oct;24(10):2086–95.
  23. Ghanavati M, Khorshidi Y, Shadnoush M, Akbari ME, Ardehali SH, Chavarri-Guerra Y, et al. Tamoxifen use and risk of endometrial cancer in breast cancer patients: A systematic review and dose-response meta-analysis. Cancer Rep (Hoboken). 2023 Apr;6(4):e1806.
  24. Komiya T, Blumenthal GM, DeChowdhury R, Fiora-vanti S, Ballas MS, Morris J, et al. A Pilot Study of Si-rolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN. Oncologist. 2019 Dec;24(12):1510-e1265.
  25. Ebrahimi N, Fardi E, Ghaderi H, Palizdar S, Khor-ram R, Vafadar R, et al. Receptor tyrosine kinase inhibitors in cancer. Cell Mol Life Sci. 2023 Mar 22;80(4):104.
  26. Takayama T, Muguruma N, Igarashi M, Ohsumi S, Oka S, Kakuta F, et al. Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication. J Anus Rectum Colon. 2023;7(4):284–300.
Language: English
Page range: 95 - 100
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2025 N Ilic, N Mitrovic, R Radeta, S Krasić, V Vukomanović, G Samardzija, M Vasic, A Vlahovic, A Sarajlija, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.