Vol 73, No 4 (2022)
Clinical vignette
Published online: 2022-07-18

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Giant ovarian cystadenoma in association with Cowden syndrome

Inês Lemos Damásio1, Valeriano Alberto Pais Horta Leite1, Rita Joana Alves Martins dos Santos1
Pubmed: 35971940
Endokrynol Pol 2022;73(4):796-797.

Abstract

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Clinical vignette

Endokrynologia Polska

DOI: 10.5603/EP.a2022.0066

ISSN 0423–104X, e-ISSN 2299–8306

Volume/Tom 73; Number/Numer 4/2022

Submitted: 21.12.2021

Accepted: 22.01.2022

Early publication date: 18.07.2022

Giant ovarian cystadenoma in association with Cowden syndrome

Inês Lemos Vargas DamásioValeriano Alberto Pais Horta LeiteRita Joana Alves Martins dos Santos
Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
Key words: PTEN hamartoma tumour syndrome; Cowden syndrome; ovarian cystadenoma; multinodular goitre

Inês Lemos Vargas Damásio, Largo Manuel Emídio da Silva nº 9, 4º direito, 1500-415 Lisboa, Portugal, tel: 000351963358265; e-mail: ines.damasio@hotmail.com

This article is available in open access under Creative Common Attribution-Non-Commercial-No Derivatives 4.0 International (CC BY-NC-ND 4.0) license, allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially

PTEN hamartoma tumour syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes caused by germline mutations in the phosphatase and tensin homologue (PTEN) gene. Cowden syndrome (CS) is considered the prototype of PTHS. Diagnostic criteria for CS were first established by Salem and Steck [1] in 1983 and later revised in 1996 by an international consortium of researchers [2]. Since then, various modifications to this consensus have been proposed, and in 2013 Pilarski et al. [3] presented revised and evidence-based clinical criteria covering the spectrum of PTEN-related clinical disorders. However, due to the wide spectrum of clinical manifestations, the clinical diagnosis of PTHS remains challenging in some cases.

A 20-year-old woman reported a 1.5-month history of rapid and progressive increase of abdominal volume. She had a previous history of total thyroidectomy due to a multinodular colloid goitre at age 7 years. Pelvic magnetic resonance imaging (MRI) showed a large cystic tumour filling the abdominopelvic cavity with an apparent origin in the left ovary, measuring 38.5 × 31 × 18 cm. The patient underwent left anexectomy and cystectomy of the right ovary. The histological analysis revealed a 38 cm mucinous cystadenoma of the left ovary and a 3 cm serous cystadenoma of the right ovary.

The patient had no other clinical features that suggested a hereditary cancer syndrome, namely mucocutaneous lesions or macrocephaly. Family history was assessed: her father and 14-year-old brother had macrocephaly. Her father also had a history of intestinal polyps, multinodular goitre, and nephrectomy due to an arteriovenous fistula. Genetic testing was performed, and a pathogenic missense c.144C>A, p.(Asn48Lys), germline mutation in exon 2 of the PTEN gene was identified. The last medical visit occurred at age 23 years, and the patient referred regular menses and had no complaints. Pelvic ultrasound revealed normal-sized right ovary with multiple follicles. The patient is under active surveillance due to the risk of development of other tumours, namely breast and colon cancer.

Damasio-1.jpg
Figure 1. Giant ovarian cystadenoma

Benign ovarian tumours have been rarely described in PHTS, and they are not included in the latest clinical criteria revision of Pilarski et al. [2]. To the authors’ knowledge, this is the first case of an association between a pathogenic mutation of the PTEN gene and a very large benign ovarian tumour in a patient who lacks the more common features of Cowden syndrome.

This report emphasizes the phenotypic variability that characterizes CS and the importance of assessing family history in young patients with a history of benign ovarian tumours.

All authors have read and approved the final form of this article.

Conflict of interest

The authors declare that they have no conflicts of interest concerning this article.

Funding

The author declare they have no grants or other funding sources.

References

  1. Salem O, Steck W. Cowden’s disease (multiple hamartoma and neoplasia syndrome). J Am Acad Dermatol. 1983; 8(5): 686696, doi: 10.1016/s0190-9622(83)70081-2, indexed in Pubmed: 6863628.
  2. Nelen MR, Padberg GW, Peeters EA, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996; 13(1): 114116, doi: 10.1038/ng0596-114, indexed in Pubmed: 8673088.
  3. Pilarski R, Burt R, Kohlman W, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013; 105(21): 16071616, doi: 10.1093/jnci/djt277, indexed in Pubmed: 24136893.