Infantile choriocarcinoma is a highly malignant germ cell tumour sub-entity thought to originate from the placenta. The aim of this review is to alert clinicians to clinical symptoms and course of neonatal/infantile choriocarcinoma in order to improve the prognosis of affected children by early diagnosis and appropriate treatment. The clinical details of all 30 cases according to a Medline literature search including two cases documented in the MAKEI germ cell tumour study are analysed. Children suffering from infantile choriocarcinoma become symptomatic at a median age of 1 month (range 0 days-5 months). Typical early symptoms with decreasing incidence are anaemia, failure to thrive, hepatomegaly, haemoptysis or respiratory failure, there may be signs of precocious puberty. The tumour affected more than one organ in most cases; organs involved were liver (23/30 cases, 77%), lung (20/30, 67%), brain (8/30, 27%), or skin (3/30, 10%). The natural disease course is rapidly fatal. Without appropriate anti-neoplastic treatment, infantile death occurs on average within 3 weeks from first presentation with a high rate of post-mortem diagnoses (9/28, 32% of live born infants). In recent years, five reported patients (5/30, 18%) achieved a sustained remission after multi-agent cisplatinum-based chemotherapy and delayed (4/5) or primary tumour resection (1/5). beta-Human chorionic gonadotropin was universally elevated in 19/19 tested infants. Maternal choriocarcinoma was reported in 17 of the 30 cases.
Conclusion: The differential diagnosis of infantile anaemia, failure to thrive and liver enlargement should include infantile choriocarcinoma and prompt measurement of beta-human chorionic gonadotropin.