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

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...

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Autores principales: FUKUDA, Norito, OGIWARA, Masakazu, NAKATA, Satoshi, HANIHARA, Mitsuto, KAWATAKI, Tomoyuki, KAWAI, Masataka, NOBUSAWA, Sumihito, YOKOO, Hideaki, KINOUCHI, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japan Neurosurgical Society 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8769414/
https://www.ncbi.nlm.nih.gov/pubmed/35079474
http://dx.doi.org/10.2176/nmccrj.cr.2020-0128
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author FUKUDA, Norito
OGIWARA, Masakazu
NAKATA, Satoshi
HANIHARA, Mitsuto
KAWATAKI, Tomoyuki
KAWAI, Masataka
NOBUSAWA, Sumihito
YOKOO, Hideaki
KINOUCHI, Hiroyuki
author_facet FUKUDA, Norito
OGIWARA, Masakazu
NAKATA, Satoshi
HANIHARA, Mitsuto
KAWATAKI, Tomoyuki
KAWAI, Masataka
NOBUSAWA, Sumihito
YOKOO, Hideaki
KINOUCHI, Hiroyuki
author_sort FUKUDA, Norito
collection PubMed
description 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.
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spelling pubmed-87694142022-01-24 An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1 FUKUDA, Norito OGIWARA, Masakazu NAKATA, Satoshi HANIHARA, Mitsuto KAWATAKI, Tomoyuki KAWAI, Masataka NOBUSAWA, Sumihito YOKOO, Hideaki KINOUCHI, Hiroyuki NMC Case Rep J Case Report 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. The Japan Neurosurgical Society 2021-06-17 /pmc/articles/PMC8769414/ /pubmed/35079474 http://dx.doi.org/10.2176/nmccrj.cr.2020-0128 Text en © 2021 The Japan Neurosurgical Society https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/)
spellingShingle Case Report
FUKUDA, Norito
OGIWARA, Masakazu
NAKATA, Satoshi
HANIHARA, Mitsuto
KAWATAKI, Tomoyuki
KAWAI, Masataka
NOBUSAWA, Sumihito
YOKOO, Hideaki
KINOUCHI, Hiroyuki
An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1
title An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1
title_full An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1
title_fullStr An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1
title_full_unstemmed An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1
title_short An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1
title_sort adult case of sellar atypical teratoid/rhabdoid tumor presenting with lung metastasis, harboring a compound heterozygous mutation in ini1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8769414/
https://www.ncbi.nlm.nih.gov/pubmed/35079474
http://dx.doi.org/10.2176/nmccrj.cr.2020-0128
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