{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T00:04:28Z","timestamp":1768089868849,"version":"3.49.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,8,17]],"date-time":"2020-08-17T00:00:00Z","timestamp":1597622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,8,17]],"date-time":"2020-08-17T00:00:00Z","timestamp":1597622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["World J Surg Onc"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Cowden\u2019s syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor phosphatase and tension homolog gene, located on chromosome 10q22-23, responsible for cell proliferation, migration, and cellular apoptosis. Its clinical presentation encompasses mucocutaneous lesions, which are present around 99% of the time; macrocephaly; and cognitive impairment, and it precedes the appearance of neoplasms such as thyroid carcinoma, breast cancer, among others.<\/jats:p>\n<jats:p>In addition to these malformations, arteriovenous malformations of the brain and spine, endocrine abnormalities, skeletal defects, and cardiopulmonary lesions may also be found.<\/jats:p>\n<jats:p>The relevance of the case is due to the fact that, through a certain phenotype, the patient\u2019s genotype can be inferred and thus followed up closely.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case representation<\/jats:title>\n<jats:p>The clinical case concerns a 28-year-old Caucasian and Portuguese woman with palmar pits, macrocephaly, and cognitive impairment. She was diagnosed with papillary thyroid carcinoma at 22\u2009years of age and proposed total thyroidectomy.<\/jats:p>\n<jats:p>At age 27, a pregnancy was diagnosed with a Breast Imaging-Reporting and Data System 2-rated breast lump. After the histological verification, it was concluded that it was a high metastatic breast sarcoma, opting for palliative mastectomy. A genetic evaluation confirmed alteration in the phosphatase and tension homolog gene, confirming Cowden\u2019s syndrome. The patient died at age 29 due to neoplastic pathology.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>This report aims to alert to the clinical signs of this entity and the clinical supervision and follow-up of these patients. In order to prevent premature deaths and to improve patient\u2019s quality of life, genetic diseases with cancer impact should be diagnosed as early as possible.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12957-020-01971-z","type":"journal-article","created":{"date-parts":[[2020,8,17]],"date-time":"2020-08-17T16:04:14Z","timestamp":1597680254000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Cowden syndrome is a risk factor for multiple neoplasm: a case report"],"prefix":"10.1186","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4870-7737","authenticated-orcid":false,"given":"Sofia","family":"Miguelote","sequence":"first","affiliation":[]},{"given":"Roberto","family":"Silva","sequence":"additional","affiliation":[]},{"given":"J. L.","family":"Fougo","sequence":"additional","affiliation":[]},{"given":"L. E.","family":"Barbosa","sequence":"additional","affiliation":[]},{"given":"J. P.","family":"Ara\u00fajo Teixeira","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2020,8,17]]},"reference":[{"key":"1971_CR1","doi-asserted-by":"crossref","unstructured":"Yehia L & Eng. One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine. Endocrine Related Cancer 25 121-140, 2018.","DOI":"10.1530\/ERC-18-0162"},{"key":"1971_CR2","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1038\/ng0596-114","volume":"13","author":"MR Nelen","year":"1996","unstructured":"Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, Van Reen MM, Easton DF, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genetics. 1996;13:114\u20136.","journal-title":"Nature Genetics"},{"issue":"1","key":"1971_CR3","first-page":"E6","volume":"20","author":"R Shenandoah","year":"2016","unstructured":"Shenandoah R, Alan RC. Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. Neurosurg Focus. 2016;20(1):E6.","journal-title":"Case report and review of the literature. Neurosurg Focus"},{"key":"1971_CR4","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/s41439-019-0056-8","volume":"6","author":"Y Ueno","year":"2019","unstructured":"Ueno Y, Enokizono H, Ohto T, Imagawa K, Tanaka M, Sakai A, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H. A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay. Human Genome Variation 6:25, 2019.","journal-title":"Human Genome Variation"},{"key":"1971_CR5","unstructured":"Pilarski R. PTEN hamartoma tumor syndrome: a clinical overview. Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, Ohio State University, Columbus, OH 43221, USA. 2019."},{"key":"1971_CR6","doi-asserted-by":"crossref","unstructured":"Dhamija R, Weindling SM, Porter AB, Hu LS, Wood CP. Hoxworth. Neuroimaging abnormalities in patients with Cowden syndrome: retrospective single-center study. Neurol Clin Pract. 2018.","DOI":"10.1212\/CPJ.0000000000000463"},{"key":"1971_CR7","doi-asserted-by":"crossref","unstructured":"Kimura F, Ueda A, Sato E, Akimoto J, Kaise H, Yamada K, Hosonaga M, Kawai Y, Teraoka S, Okazaki M, Ishikawa T. Hereditary breast cancer associated with Cowden syndrome \u2013 related PTEN mutation with Lhermitte-Duclos disease, Surgical Case Report, 2017.","DOI":"10.1186\/s40792-017-0355-6"},{"key":"1971_CR8","doi-asserted-by":"crossref","unstructured":"Porto AC, Roider E, Ruzicka T. Cowden syndrome: report of a case and brief review of literature. An Bras Dermatol. Nov-Dec; 88(6 Suppl 1):52-55, 2013.","DOI":"10.1590\/abd1806-4841.20132578"},{"key":"1971_CR9","doi-asserted-by":"crossref","unstructured":"Cavaill\u00e9 M, Ponelle-Chachuat F, Uhrhammer N, Viala S, Gay-Bellile M, Privat M, Bidet Y, Bignon Y. Early onset multiple primary tumors in atypical presentation of Cowden syndrome identified by whole-exome-sequencing. Front Genet. 2018.","DOI":"10.3389\/fgene.2018.00353"},{"key":"1971_CR10","unstructured":"Garofola C, Gross G. Cowden disease (multiple hamartoma syndrome): NCBI Bookshelf; 2019."},{"key":"1971_CR11","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/j.ctrv.2010.04.002","volume":"36","author":"A Farooq","year":"2010","unstructured":"Farooq A, Walker LJ, Bowling J, Audisio RA (2010) Cowden syndrome. Cancer Treat Rev 36: 577\u2013583.","journal-title":"Cancer Treat Rev"},{"key":"1971_CR12","unstructured":"National Comprehensive Cancer Network (NCCN). Cowden syndrome\/PTEN hamartoma tumor syndrome (2018)."},{"key":"1971_CR13","unstructured":"Eng C. PTEN hamartoma tumor syndrome (PHTS) \u2013 GeneReviews, 2001, Updated 2016."}],"container-title":["World Journal of Surgical Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12957-020-01971-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12957-020-01971-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12957-020-01971-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T00:06:38Z","timestamp":1629158798000},"score":1,"resource":{"primary":{"URL":"https:\/\/wjso.biomedcentral.com\/articles\/10.1186\/s12957-020-01971-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,17]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1971"],"URL":"https:\/\/doi.org\/10.1186\/s12957-020-01971-z","relation":{},"ISSN":["1477-7819"],"issn-type":[{"value":"1477-7819","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,17]]},"assertion":[{"value":"30 March 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 July 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 August 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All clinical information, whether imaging or histological, was provided by the bioethics department of the University Hospital Center of S. Jo\u00e3o for the elaboration of the master\u2019s thesis in medicine. The respective authorizations of the hospital ethics committee are in the supplement.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent was provided by the patient\u2019s hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"211"}}