An adolescent with primary amenorrhoea and a 45,X/46,XY karyotype undergoes exploration for a pelvic mass arising in a streak gonad. Histology shows nests containing germ cells, sex cord derivatives and calcifications. Which tumour is this, and what is its key clinical implication?

• A Sex cord tumour with annular tubules, associated with Peutz-Jeghers syndrome
• B Immature teratoma, malignant and requiring chemotherapy
• C Yolk sac tumour, malignant with AFP production
• D Gonadoblastoma, benign but a precursor to invasive dysgerminoma requiring gonadectomy ✓

Explanation

Gonadoblastoma is a mixed germ cell and sex cord stromal tumour occurring almost exclusively in dysgenetic gonads carrying Y chromosomal material. It is itself benign but frequently gives rise to invasive dysgerminoma, so prophylactic gonadectomy is advised once Y material is identified in a dysgenetic patient. Sex cord tumour with annular tubules links to Peutz-Jeghers syndrome and is a separate entity.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

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