eprintid: 10158482 rev_number: 9 eprint_status: archive userid: 699 dir: disk0/10/15/84/82 datestamp: 2022-11-02 15:30:23 lastmod: 2022-11-02 15:30:23 status_changed: 2022-11-02 15:30:23 type: article metadata_visibility: show sword_depositor: 699 creators_name: Dawson, Hannah creators_name: Smrke, Alannah creators_name: Ellery, Peter M creators_name: Wilkinson, Nafisa creators_name: Rosenthal, Adam N creators_name: McVeigh, Terri P title: Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome ispublished: pub divisions: UCL divisions: G15 divisions: D11 divisions: B02 keywords: PTEN, Cowden syndrome, Vulval fibroadenoma, Ectopic breast tissue, PTEN hamartoma tumour syndrome note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. abstract: PTEN is a tumour suppressor gene involved in regulating cell division. Pathogenic germline variants in PTEN predispose to benign and malignant growths of numerous organs, including of the breast. In the following report, we describe the first documented case of a fibroadenoma developing in ectopic breast tissue of the vulva in a patient with a germline pathogenic variant in PTEN. This highlights the risk of hyperplasia developing in any breast tissue, including rare ectopic sites, particularly in patients with underlying germline variants in cancer susceptibility genes. date: 2022-07 date_type: published publisher: SPRINGER official_url: https://doi.org/10.1007/s10689-021-00275-9 oa_status: green full_text_type: other language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1889149 doi: 10.1007/s10689-021-00275-9 medium: Print-Electronic pii: 10.1007/s10689-021-00275-9 lyricists_name: Rosenthal, Adam lyricists_id: AROSE28 actors_name: Rosenthal, Adam actors_id: AROSE28 actors_role: owner funding_acknowledgements: [National Institute for Health Research University College London (UCL) Hospitals/UCL Comprehensive Biomedical Research Centre] full_text_status: public publication: Familial Cancer volume: 21 pagerange: 363-368 pages: 6 event_location: Netherlands issn: 1389-9600 citation: Dawson, Hannah; Smrke, Alannah; Ellery, Peter M; Wilkinson, Nafisa; Rosenthal, Adam N; McVeigh, Terri P; (2022) Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome. Familial Cancer , 21 pp. 363-368. 10.1007/s10689-021-00275-9 <https://doi.org/10.1007/s10689-021-00275-9>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10158482/2/Rosenthal_PTEN%2028.07.2021_untracked.pdf