Adult Atypical Teratoid/Rhabdoid Tumors

World Neurosurgery
Winona W WuIan F Dunn

Abstract

Atypical teratoid/rhabdoid tumors (AT/RTs) are highly malignant neoplasms that rarely occur in adults. Due to the complex histology of AT/RTs, the differential diagnosis of these tumors is quite challenging and increasingly relies on demonstration of characteristic SMARCB1/INI1 inactivation in tumor cells. A 51-year-old man presented with diplopia, lethargy, and memory deficit owing to Parinaud syndrome and hydrocephalus. Magnetic resonance imaging revealed a T2-hyperintense and homogeneously enhancing tectal mass that extended to the pineal region. Initial biopsy suggested a World Health Organization grade II myxopapillary astrocytoma. However, subsequent definitive resection revealed an AT/RT, with loss of SMARCB1/INI1 observed through immunohistochemical staining as well as array cytogenetic analysis. Molecular profiling revealed additional mutations in RHPN2(L385I), MDM4(D396G), FLT3(V194M), and NPRL3(D53N). Pathologic diagnoses in the modern era increasingly integrate molecular data for confirmation as well as prognostication. We present a rare case of a tectal AT/RT in an adult patient and report several novel mutations previously unrecognized in this tumor subtype, in addition to canonical SMARCB1/INI1 loss. Further inve...Continue Reading

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Citations

Jun 24, 2016·The Neuroradiology Journal·Fang YuCarlos Bazan
Dec 9, 2017·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Yan-Ming RenYan Ju
May 10, 2018·Brain Pathology·Hui-Yuan Su, Yu-Feng Su
Nov 8, 2017·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Valeria BarresiFilippo F Angileri
Feb 15, 2019·European Radiology·Amandine CrombéMichèle Kind
Aug 6, 2020·Surgical Neurology International·Idan LevitanYosef Laviv
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Nov 12, 2015·Frontiers in Oncology·Swethajit BiswasAmanda Swain
Feb 18, 2021·British Journal of Neurosurgery·Ai Jun PengNi Chen

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