Testicular yolk sac tumour

Last revised by Arlene Campos on 25 Jan 2024

Testicular yolk sac tumour, also known as endodermal sinus tumour of the testis, is the most common childhood testicular tumour (80%), with most cases occurring before the age of two years 1. In adults, pure yolk sac tumour is extremely rare, however mixed germ cell tumour is commonly seen.

Totipotent cells, which later form extraembryonic fetal membranes, give rise to yolk sac tumours.

Perivascular structures called Schiller-Duval bodies can be found in 50% of tumours and are pathognomonic.

AFP (alpha fetoprotein) is elevated in >90% cases of yolk sac tumour. Macroscopically, the testis is replaced by a gelatinous mass. Microscopically, a positive reaction for AFP is seen in tumour cells.

Prospective radiologic characterisation of yolk sac tumour is difficult, however a heterogeneous testicular mass favours non-seminomatous germ cell tumour (NSGCT), and at age <2 years, yolk sac tumour is the favoured diagnosis.

Diffusely enlarged heterogeneous testis.

Heterogeneous testicular mass lesion with post-contrast heterogeneous enhancement, with areas of haemorrhage/necrosis 2.

If the tumour is restricted to the testis, and if the serum AFP is not elevated, orchidectomy is the preferred treatment, with close follow-up. If relapse occurs, chemotherapy is the treatment of choice. The lungs are the most common site of recurrence.

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