Ovary: Sex cord-stromal tumors

There appear to be several established clinical syndromes associated with several subtypes of sex cord-stromal tumours. 30% of patients with sex cord tumours with annular tubules have Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder characterised by multiple gastrointestinal hamartomatous polyps, increased risk of various neoplasms, and melanocytic macules of the lips, buccal mucosa, and digits. Peutz-Jegher females are also susceptible to granulosa cell tumours. When associated with this syndrome, the tumour is usually small, benign and bilateral. Meanwhile in the absence of this syndrome, it is usually large and unilateral, and malignant in 20% of cases. There have also been clinical reports of several other types of sex cord-stromal tumours being less frequently associated with PJS including: oxyphilic Sertoli cell tumour; Sertoli cell tumour (lipid-rich); malignant Sertoli-Leydig cell tumour and ovarian fibroma. 10% of patients with lipid cell tumours have Cushing Syndrome. Fibromas are associated with Meigs Syndrome. The phenotype of Meigs syndrome is a benign ovarian tumour (fibroma), with ascites and pleural effusion that resolve within several weeks to months following surgical resection without any recurrence. Thus it imitates a malignant tumour, but has a very good prognosis. Indeed, following resection, life expectancy is similar to the general population. Ovarian fibromas occur in 75% of female patients with Gorlin syndrome (also known as Nevoid basal cell carcinoma syndrome). Gorlin syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibroma and medulloblastoma. 2 theories account for the aetiology of sex cord-stromal tumours hypothesising that they develop either from: (1) mesenchyme of the developing genital ridge, or (2) precursors of the mesonephric and coelmic epithelium. No definite aetiologies have been established for granulosa cell tumours, although chromosomal abnormalities and abnormal autocrine and endocrine signalling have been suggested.