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Atypical Teratoid Rhabdoid Tumor With TTF-1 Expression: A Case Report and Possible Insight Into Its Embryologic

Sumit Das1,2, Harris Wang3, Jake Mandziuk1

  • 1University of Alberta and Stollery Children's Hospital, Edmonton, AB, Canada.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|February 6, 2026
PubMed
Summary
This summary is machine-generated.

A rare supratentorial atypical teratoid rhabdoid tumor (AT/RT) in a child showed specific molecular markers. This case offers insights into the embryonic origins of this highly malignant brain tumor.

Keywords:
AT/RTTTF-1embryogenesismolecularneuropathology

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Area of Science:

  • Neuro-oncology
  • Developmental Neuroscience
  • Molecular Pathology

Background:

  • Atypical teratoid rhabdoid tumor (AT/RT) is a highly malignant CNS WHO grade 4 embryonal neoplasm.
  • While most AT/RTs occur in the posterior fossa, supratentorial locations are also observed.
  • The embryogenesis of AT/RT remains poorly understood.

Purpose of the Study:

  • To present a case of supratentorial AT/RT in a pediatric patient.
  • To investigate the potential embryonic origins of supratentorial AT/RT.

Main Methods:

  • Case report of a 3-year-old male with supratentorial AT/RT.
  • Clinical presentation, neuroimaging, and neuropathologic examination (morphologic, immunohistochemical, molecular).

Main Results:

  • The tumor was confirmed as AT/RT (Group 1, SHH subtype) via comprehensive analysis.
  • Tumor cells showed immunoreactivity for TTF-1 (NKX2.1), a marker associated with GABAergic precursor cells in the medial ganglionic eminence.

Conclusions:

  • This case provides potential insights into the embryonic origins of supratentorial AT/RT.
  • TTF-1 expression in AT/RT may link it to specific developmental pathways.