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Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis

Authors
  • Hiba, Alzoubi1, 2
  • Francesca, Gianno2
  • Felice, Giangaspero2, 3
  • Daniela, Bartolini4
  • Luca, Riccioni4
  • Evelina, Miele5
  • Manila, Antonelli2
  • 1 Department of Basic Medical Sciences, Faculty of medicine, Yarmouk University, Irbid, Jordan
  • 2 Department of Radiological, Oncological & Anatomopathological Sciences, Sapienza University of Rome, Rome, Italy
  • 3 IRCCS Neuromed-Mediterranean Neurological Institute, Pozzilli, Italy
  • 4 Department of Pathology, Bufalini Hospital, Cesena, Italy
  • 5 Department of Paediatric Haematology/Oncology, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy
Type
Published Article
Journal
CNS Oncology
Publisher
Future Medicine
Publication Date
Jun 30, 2020
Volume
9
Issue
2
Identifiers
DOI: 10.2217/cns-2020-0006
PMID: 32602741
PMCID: PMC7341157
Source
PubMed Central
Keywords
License
Green

Abstract

Atypical teratoid/rhabdoid tumor (ATRT) is a malignant CNS embryonal tumor that mostly occurs in childhood, adult cases are rare. We report a case of a 23-year-old male with an extra-axial dura-based lesion in the left frontal area, previously diagnosed as gliosarcoma. After 6 years, the patient had a recurrence and the previous slides were reviewed. Tumor was positive for vimentin and negative for INI1. The differential diagnosis for this extra-axial tumor with long survival was rhabdoid meningioma with INI1 loss or ATRT. DNA methylation profiling was performed to reach the final and the most definitive diagnosis; the result was ATRT. Our case suggests the usefulness of DNA methylation profiling for diagnosing challenging CNS tumors.

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