Mathew R Voisin1, Chris Ovenden2, Derek S Tsang3, Abha A Gupta4, Annie Huang5, Andrew F Gao6, Phedias Diamandis6, Joao P Almeida7, Fred Gentili7. 1. Department of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada. Electronic address: mvoisin@qmed.ca. 2. Adelaide Medical School, University of Adelaide, Adelaide, Australia. 3. Radiation Medicine Program, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada. 4. Department of Medical Oncology, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada. 5. Pediatric Brain Tumor Program, Hospital for Sick Children, Toronto, Ontario, Canada. 6. Department of Pathology, University Health Network, Toronto, Ontario, Canada. 7. Department of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Abstract
BACKGROUND: Adult 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 DESCRIPTION: A 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. CONCLUSIONS: This 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.
BACKGROUND: Adult 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 DESCRIPTION: A 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. CONCLUSIONS: This 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.
Authors: Cinzia Baiano; Rosa Della Monica; Raduan Ahmed Franca; Maria Laura Del Basso De Caro; Luigi Maria Cavallo; Lorenzo Chiariotti; Tamara Ius; Emmanuel Jouanneau; Teresa Somma Journal: Front Oncol Date: 2022-04-01 Impact factor: 5.738
Authors: M C Frühwald; K Nemes; H Boztug; M C A Cornips; D G Evans; R Farah; S Glentis; M Jorgensen; K Katsibardi; S Hirsch; K Jahnukainen; I Kventsel; K Kerl; C P Kratz; K W Pajtler; U Kordes; V Ridola; E Stutz; F Bourdeaut Journal: Fam Cancer Date: 2021-02-03 Impact factor: 2.375