• Mathew R Voisin, Chris Ovenden, Derek S Tsang, Abha A Gupta, Annie Huang, Andrew F Gao, Phedias Diamandis, Joao P Almeida, and Fred Gentili.
• Department of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada. Electronic address: mvoisin@qmed.ca.
• World Neurosurg. 2019 Jul 1; 127: 336-345.

BackgroundAdult sellar atypical teratoid/rhabdoid tumor (ATRT) is a rare diagnosis that has recently been shown to be a clinicopathologically and genetically distinct variant of ATRT occurring almost exclusively in middle-aged women. Although up to one third of pediatric ATRT is caused by a familial syndrome, no previous cases of a familial adult sellar ATRT have been reported. We present the first case report of a familial germline mutation causing adult sellar ATRT and a literature review of 29 previously reported cases of sporadic adult sellar ATRT.Case DescriptionA 51-year-old woman with a family history of brain tumors spanning 3 generations presented with visual decline and was diagnosed with an adult sellar ATRT. Genetic studies showed a heterozygous splice-site loss-of-function mutation of the INI1 gene in exon 7. Treatment included endoscopic endonasal biopsy, craniospinal irradiation, and focal tumor boost, followed by adjuvant chemotherapy.ConclusionsThis is the first case report of a familial germline mutation causing adult sellar ATRT. This article highlights the importance of a thorough family history and genetic testing in these individuals and reviews the current genetics, histopathology, and multidisciplinary treatment approach in this rare condition.Copyright © 2019 Elsevier Inc. All rights reserved.

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