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Published on: June 24, 2020
Unexplained anaemia and failure to thrive as initial symptoms of infantile choriocarcinoma: a review
Martin E G Blohm1, Ulrich Göbel
1Department of Haematology and Oncology, Heinrich Heine University Children's Hospital, Moorenstrasse 5, 40225 Duesseldorf, Germany.
Insights
Infantile choriocarcinoma, a rare placental germ cell tumor, presents with anemia and failure to thrive. Early diagnosis and platinum-based chemotherapy are crucial for improving outcomes in affected children.
Area of Science:
- Pediatric Oncology
- Gynecologic Oncology
- Neonatal Medicine
Background:
- Infantile choriocarcinoma is a rare, highly malignant germ cell tumor originating from the placenta.
- It affects infants, presenting with symptoms like anemia, failure to thrive, and hepatomegaly.
- The natural course of the disease is rapidly fatal without prompt intervention.
Purpose of the Study:
- To raise clinician awareness of infantile choriocarcinoma's clinical presentation and disease course.
- To emphasize the importance of early diagnosis and appropriate treatment for improving prognosis.
- To analyze clinical details from a literature search and case studies.
Main Methods:
- Medline literature search for infantile choriocarcinoma cases.
- Inclusion of two cases from the MAKEI germ cell tumor study.
- Analysis of clinical details, symptoms, affected organs, and treatment outcomes.
Main Results:
- Thirty cases were analyzed, with symptom onset at a median age of 1 month.
- Common symptoms include anemia, failure to thrive, hepatomegaly, and respiratory issues.
- The tumor frequently metastasized to the liver (77%), lungs (67%), and brain (27%).
- Without treatment, survival is short (average 3 weeks), with a high rate of post-mortem diagnosis.
- Eighteen percent (5/30) achieved remission with platinum-based chemotherapy and surgery.
- Elevated beta-human chorionic gonadotropin (hCG) was universal (19/19).
- Maternal choriocarcinoma was reported in 17 cases.
Conclusions:
- Infantile choriocarcinoma should be considered in the differential diagnosis of infantile anemia, failure to thrive, and liver enlargement.
- Prompt measurement of beta-human chorionic gonadotropin (hCG) is essential for diagnosis.
- Early detection and multi-agent, platinum-based chemotherapy offer the best chance for remission.
Unlabelled:
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.