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Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome

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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.

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References

  1. Hollander MC, Blumenthal GM, Dennis PA (2011) PTEN loss in the continuum of common cancers, rare syndromes and mouse models. Nat Rev Cancer 11(4):289–301

    Article  CAS  Google Scholar 

  2. Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R et al (1999) Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations. Eur J Hum Genet 7(3):267–273

    Article  CAS  Google Scholar 

  3. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 105(21):1607–1616

    Article  CAS  Google Scholar 

  4. Pilarski R (2019) PTEN hamartoma tumor syndrome: A clinical overview. Cancers 11(6):844

    Article  Google Scholar 

  5. Orloff M, Eng C (2008) Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene 27(41):5387–5397

    Article  CAS  Google Scholar 

  6. Ngeow J, Sesock K, Eng C (2017) Breast cancer risk and clinical implications for germline PTEN mutation carriers. Breast Cancer Res Treat 165(1):1–8

    Article  CAS  Google Scholar 

  7. Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A et al (2013) High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 50(4):255–263

    Article  CAS  Google Scholar 

  8. Tan M-H, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C (2012) Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18(2):400–407

    Article  CAS  Google Scholar 

  9. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C et al (2014) Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome. Fam Cancer 13(1):57–63

    Article  CAS  Google Scholar 

  10. Pilarski R (2009) Cowden syndrome: a critical review of the clinical literature. J Genet Couns 18(1):13–27

    Article  Google Scholar 

  11. Baisre A, Heller DS, Lee J, Zheng P (2002) Fibroadenoma of the vulva. A report of two cases. J Reprod Med 47(11):949

    PubMed  Google Scholar 

  12. Carter JE, Mizell KN, Tucker JA (2008) Mammary-type fibroepithelial neoplasms of the vulva: a case report and review of the literature. J Cutan Pathol 35(2):246–249

    PubMed  Google Scholar 

  13. Kalyani R, Srinivas MV, Veda P (2014) Vulval fibroadenoma—a report of two cases with review of literature. Int J Biomed Sci 10(2):143

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Donati P, Amantea A (1996) Adenoma of anogenital mammary-like glands. Am J Dermatopathol 18(1):73–76

    Article  CAS  Google Scholar 

  15. van der Putte R (1991) Anogenital “sweat” glands: histology and pathology of a gland that may mimic mammary glands. Am J Dermatopathol 13(6):557–567

    Article  Google Scholar 

  16. Đorđević M, Jovanović B, Mitrović S, Đorđević G (2008) Ectopic mammary tissue in vulva. Vojnosanit Pregl 65(5):407–409

    Article  Google Scholar 

  17. Fracchioli S, Puopolo M, Longrais IR, Scozzafava M, Bogliatto F, Arisio R et al (2006) Primary “breast-like” cancer of the vulva: a case report and critical review of the literature. Int J Gynecol Cancer. https://doi.org/10.1111/j.1525-1438.2006.00364.x

    Article  PubMed  Google Scholar 

  18. Assor D, Davis JB (1977) Multiple apocrine fibroadenomas of the anal skin. Am J Clin Pathol 68(3):397–399

    Article  CAS  Google Scholar 

  19. Hedayat AA, Pettus JR, Marotti JD, Tafe LJ, Holubar SD, Lisovsky M (2016) Proliferative lesion of anogenital mammary-like glands in the setting of Cowden syndrome: case report and review of the literature. J Cutan Pathol 43(8):707–710

    Article  Google Scholar 

  20. Eccles BK, Copson E, Maishman T, Abraham JE, Eccles DM (2015) Understanding of BRCA VUS genetic results by breast cancer specialists. BMC Cancer 15:936

    Article  CAS  Google Scholar 

  21. Han SY, Kato H, Kato S, Suzuki T, Shibata H, Ishii S et al (2000) Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. Cancer Res 60(12):3147–3151

    CAS  PubMed  Google Scholar 

  22. RCPI. Certificate in Cancer Genetics. 2021; Available from: https://courses.rcpi.ie/product?catalog=Certificate-in-Cancer-Genetics

  23. Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C (2010) Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology 139(6):1927–1933

    Article  CAS  Google Scholar 

  24. Scala S, Bruni P, Lo Muzio L, Mignogna M, Viglietto G, Fusco A (1998) Novel mutation of the PTEN gene in an Italian Cowden’s disease kindred. Int J Oncol 13(4):665–668

    CAS  PubMed  Google Scholar 

  25. National Center for Biotechnology Information. ClinVar; [VCV000189406.6]. [cited 2021 28 July 2021]; Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000189406.6

  26. National Center for Biotechnology Information. ClinVar; [VCV000183726.8]. [cited 2021 28 July 2021]; Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000183726.8

  27. Mester JL, Ghosh R, Pesaran T, Huether R, Karam R, Hruska KS et al (2018) Gene-specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN Expert Panel. Hum Mutat 39(11):1581–1592

    Article  Google Scholar 

  28. Group UCG Guidelines for management of tumour risk in PTEN hamartoma syndrome May 2017 [cited 2021 26 January ]; Available from: https://www.ukcgg.org/media/10879/pten_management_-_cgg_4may2017.pdf

  29. da Costa ATMD, Coelho AM, Lourenço AV, Bernardino M, Ribeirinho AL, Jorge CC (2012) Primary breast cancer of the vulva: a case report. J Low Genit Tract Dis 16(2):155–157

    Article  Google Scholar 

  30. Camisa C (1980) Accessory breast on the posterior thigh of a man. J Am Acad Dermatol 3(5):467–469

    Article  CAS  Google Scholar 

  31. Conde DM, Kashimoto E, Torresan RZ, Alvarenga M (2006) Pseudomamma on the foot: an unusual presentation of supernumerary breast tissue. Dermatol Online J. https://doi.org/10.5070/D339n411b8

    Article  PubMed  Google Scholar 

  32. Babuccu O, Kalayci M, Turhan E, Gun BD, Dursun A (2012) Mammae erraticae: A case report and reappraisal of the related theories. Aesthetic Plast Surg 36(3):607–610

    Article  Google Scholar 

  33. Koltuksuz U, Aydin E (1997) Supernumerary breast tissue: a case of pseudomamma on the face. J Pediatr Surg 32(9):1377–1378

    Article  CAS  Google Scholar 

  34. Dhaoui A, Nfoussi H, Kchir N, Haouet S (2012) Vulvar lactating adenoma associated to a fibroadenoma: common neoplasms in an uncommon site. Pan Afr Med J. https://doi.org/10.11604/pamj.2012.13.47.1554

    Article  PubMed  PubMed Central  Google Scholar 

  35. Kazakov DV, Spagnolo DV, Kacerovska D, Michal M (2011) Lesions of anogenital mammary-like glands: an update. Adv Anat Pathol 18(1):1–28

    Article  Google Scholar 

  36. Nihon-Yanagi Y, Ueda T, Kameda N, Okazumi S (2011) A case of ectopic breast cancer with a literature review. Surg Oncol 20(1):35–42

    Article  Google Scholar 

  37. Lopes A, St Louis J, Balancin ML, Nogueira-Rodrigues A, Silva LC, Paulino E et al (2018) A rare presentation of primary breast carcinoma in the vulva: a case report and literature review. Clin Breast Cancer 18(3):e291

    Article  Google Scholar 

  38. Butler B, Leath CA III, Barnett JC (2014) Primary invasive breast carcinoma arising in mammary-like glands of the vulva managed with excision and sentinel lymph node biopsy. Gynecol Oncol Case Rep 7:7

    Article  Google Scholar 

  39. Bazzichetto C, Conciatori F, Pallocca M, Falcone I, Fanciulli M, Cognetti F et al (2019) PTEN as a prognostic/predictive biomarker in cancer: an unfulfilled promise? Cancers 11(4):435

    Article  CAS  Google Scholar 

  40. Golmohammadi R, Rakhshani MH, Moslem AR, Pejhan A (2016) Prognostic role of PTEN gene expression and length of survival of breast cancer patients in the north east of Iran. Asian Pac J Cancer Prev 17(sup3):305–309

    Article  Google Scholar 

  41. Masmoudi A, Chermi ZM, Marrekchi S, Raida BS, Boudaya S, Mseddi M et al (2011) Cowden syndrome. J Dermatol Case Rep 5(1):8–13

    Article  Google Scholar 

  42. Delannoy P, Debray FG, Verloes A, Beckers A, Valdes-Socin H (2017) How to recognize Cowden syndrome: A novel PTEN mutation description. Ann Endocrinol (Paris) 78(3):188–190

    Article  Google Scholar 

  43. Seol JE, Park IH, Lee W, Kim H, Seo JK, Oh SH (2015) Cowden syndrome with a novel germline PTEN mutation and an unusual clinical course. Ann Dermatol 27(3):306–309

    Article  Google Scholar 

  44. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF et al (1999) PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8(8):1461–1472

    Article  CAS  Google Scholar 

  45. Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M et al (2010) Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract 8(1):1–7

    Article  Google Scholar 

  46. Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N (2020) Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome. Eur J Hum Genet 28(10):1387–1393

    Article  Google Scholar 

  47. Royal College of Obstetricians & Gynaecologists. The Distal Fallopian Tube as the Origin of Non-Uterine Pelvic High-Grade Serous Carcinomas. Scientific Impact Paper No. 44. 2014

  48. Statement from The Royal Australian and New Zealand College of Obstetricians and Gynaecologists: Managing the adnexae at the time of hysterectomy for benign gynaecological disease (C-Gyn 25). 2017. https://ranzcog.edu.au. Accessed 14 Sep 2021

  49. Hernandez Lopez AL, Manandhar S, Dubow L (2020) Pregnancy-unrelated fibroadenoma in ectopic breast tissue in the axilla and vulva: A case report. Case Rep Women’s Health 28:e00255–e00255

    Article  Google Scholar 

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Funding

ANR is supported by the National Institute for Health Research University College London (UCL) Hospitals/UCL Comprehensive Biomedical Research Centre.

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Authors and Affiliations

  1. The Royal Marsden Hospital NHS Foundation Trust, 203 Fulham Road, London, SW3 6JJ, UK

    Hannah Dawson, Alannah Smrke & Terri P. McVeigh

  2. Department of Cellular Pathology, University College London Hospitals NHS Foundation Trust, London, UK

    Peter M. Ellery & Nafisa Wilkinson

  3. Department of Women’s Cancer, Institute for Women’s Health, University College London, London, UK

    Adam N. Rosenthal

Authors
  1. Hannah Dawson
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  2. Alannah Smrke
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  3. Peter M. Ellery
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  4. Nafisa Wilkinson
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  6. Terri P. McVeigh
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Contributions

Manuscript preparation—HD, AS, TMcV, analysis—all authors, figure preparation—NW, PE, final manuscript editing—all authors.

Corresponding author

Correspondence to Terri P. McVeigh.

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The authors have no relevant conflicts of interest to disclose.

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Written informed consent was obtained from the patient for publication of this case report.

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Dawson, H., Smrke, A., Ellery, P.M. et al. Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome. Familial Cancer 21, 363–368 (2022). https://doi.org/10.1007/s10689-021-00275-9

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  • DOI: https://doi.org/10.1007/s10689-021-00275-9

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