PHENOTYPIC VARIABILITY OF COWDEN SYNDROME WITHIN A SINGLE FAMILY: IMPACT ON DIAGNOSIS, MANAGEMENT AND GENETIC COUNSELLING
Ilic N1, Mitrovic N2, Radeta R3, Krasić S4,5, Vukomanović V4,5, Samardzija G2, Vasic M6, Vlahovic A5,6, Sarajlija A1,5
*Corresponding Author: *Corresponding Author: Ass. Prof. Dr. Adrijan Sarajlija MD, PhD, Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute “Dr Vukan Čupić”, Radoja Dakića 6-8, 11070 Novi Beograd, Serbia; University of Belgrade, Faculty of Medicine, Belgrade, Serbia; e-mail: adrijans2004@yahoo.com
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REFERENCE

1. Gammon A, Jasperson K, Champine M. Genetic basis of Cowden syndrome and its implications for clini- cal 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 can- cer 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 Co- lon. 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, Mus- catello 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 lipo- mas 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, Alo- mari AI, Mulliken JB, et al. The spectrum of vascular anomalies in patients with PTEN mutations: implica- tions 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 Ma- lignancy. Cancers (Basel). 2021 Jun 22;13(13):3120. 16. Kingdom R, Wright CF. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Popu- lation 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. Chemopre- vention and treatment of experimental Cowden’s dis- ease 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. Tamoxi- fen use and risk of endometrial cancer in breast cancer patients: A systematic review and dose-re- sponse 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.



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