ArticleFrontiers in oncology2026
Infantile giant intracranial-extracranial communicating mixed germ cell tumor with ARID1B gene mutation: a case report.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Congenital intracranial-extracranial communicating mixed germ cell tumors (MGCTs) are extremely rare in infants, with no standardized treatment protocol. We report a 2-month-old female infant with giant congenital intracranial-extracranial communicating MGCT accompanied by typical "crater-like" skull defect. Preoperative serum alpha-fetoprotein (AFP) was significantly elevated, while β-human chorionic gonadotropin (β-HCG) was within normal range. Maximal safe resection was performed, and pathology confirmed mixed germ cell tumor (immature teratoma WHO grade 3 + yolk sac tumor). Next-generation sequencing identified a novel ARID1B c.1628C>G (p.A543G) somatic mutation, previously unreported in pediatric intracranial MGCTs. Postoperative imaging confirmed subtotal resection with continuous AFP decline. No tumor recurrence was observed during 3-month follow-up. This case expands the genomic mutation spectrum of pediatric intracranial MGCTs and supports maximal safe resection as first-line treatment for this rare infantile tumor.
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