Atypical Teratoid/Rhabdoid Sellar Tumor in an Adult with a Familial History of a Germline SMARCB1 Mutation: Case Report and Review of the Literature

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.

Keywords: ATRT; INI1; RTPS; SMARCB1; Sellar; hSNF5.