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.
Abstract

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