Infantile posterior fossa atypical teratoid/rhabdoid tumor: navigating diagnostic complexity and molecular paradigms.

Childs Nerv SystOct 29, 2026 (epub)
Case ReportPathology (Anatomic & Clinical)NeurosurgeryPediatricsOncology (Medical)Medical GeneticsOpen access

Sukhrob A Tashmatov, Bahodir A Ruzinazarov

✦ AI-curated · Sources linked

Case in brief

A female infant younger than 1 year presented with a massive cystic-solid posterior fossa tumor and rapidly developing obstructive hydrocephalus. Cerebrospinal fluid diversion was required before gross total microsurgical resection. Neuropathological assessment showed rhabdoid morphology, an elevated Ki-67 index, and complete loss of nuclear SMARCB1 (INI1) expression, establishing atypical teratoid/rhabdoid tumor (AT/RT). The report discusses the morphological and immunohistochemical features used to distinguish AT/RT from medulloblastoma and ependymoma in infants, as well as molecular subgrouping and screening for Rhabdoid Tumor Predisposition Syndrome.

What made this case unusual

The diagnostic challenge was distinguishing an infantile posterior fossa AT/RT from medulloblastoma and ependymoma; complete loss of SMARCB1 (INI1) nuclear expression supported the diagnosis.

Diagnostic / clinical pearl

In an infant with a posterior fossa tumor, integrate morphology and immunohistochemistry; complete loss of nuclear SMARCB1 (INI1) expression is a key diagnostic finding for AT/RT.

Source

PubMed · PMID 42955107Free full text on PubMed Central

Published in Childs Nerv Syst. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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