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