An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1

• Published in: NMC Case Report Journal Vol. 8; no. 1; pp. 267 - 274
• Main Authors: FUKUDA, Norito, OGIWARA, Masakazu, NAKATA, Satoshi, HANIHARA, Mitsuto, KAWATAKI, Tomoyuki, KAWAI, Masataka, NOBUSAWA, Sumihito, YOKOO, Hideaki, KINOUCHI, Hiroyuki
• Format: Journal Article
• Language: English
• Published: Japan The Japan Neurosurgical Society 2021
• Subjects: adult AT/RT; Case Report; compound heterozygous mutation; INI1; lung metastasis; staghorn appearance; staghorn appearance; lung metastasis; adult AT/RT; compound heterozygous mutation; INI1
• ISSN: 2188-4226; 2188-4226
• DOI: 10.2176/nmccrj.cr.2020-0128

A typical teratoid/rhabdoid tumors (AT/RT) are highly malignant embryonal tumors in children that are associated with inactivation of the integrase interactor 1 (INI1) gene. Several adult cases of AT/RT have been reported, which were characterized by the sellar occurrence and predominantly occurred in females with INI1 mutation variants. However, clinical and genetic features are poorly understood in this unusual entity. We experienced a case of a 45-year-old female with sellar AT/RT presenting diplopia, who underwent subtotal removal of the tumor by the endoscopic endonasal transsphenoidal approach. Pathological diagnosis was AT/RT with INI1 inactivation on immunohistochemistry. Subsequently, multiple lung metastases were confirmed on fluorodeoxyglucose positron emission tomography (FDG-PET). Although she received postoperative chemoradiotherapy, she died of cerebrospinal fluid dissemination. Autopsy revealed cerebrospinal dissemination and lung metastasis of AT/RT. Biallelic alterations in the INI1 gene were identified by direct sequencing, harboring on different alleles (compound heterozygous mutations) was observed, which is the potential genetic pattern in adult AT/RT. Literature review indicated that lung metastasis frequently occurs in sellar AT/RTs, which is accompanied by cavernous sinus invasion. These observations suggested that cavernous sinus invasion causes haematogenous metastasis to the lung in sellar AT/RT. We discuss clinical and pathological features in adult sellar AT/RT to improve understanding of this unique entity.