Cargando…
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...
Autores principales: | , , , , , , , , |
---|---|
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 |
_version_ | 1784635128717246464 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8769414 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | The Japan Neurosurgical Society |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT fukudanorito anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT ogiwaramasakazu anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT nakatasatoshi anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT haniharamitsuto anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT kawatakitomoyuki anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT kawaimasataka anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT nobusawasumihito anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT yokoohideaki anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT kinouchihiroyuki anadultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT fukudanorito adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT ogiwaramasakazu adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT nakatasatoshi adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT haniharamitsuto adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT kawatakitomoyuki adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT kawaimasataka adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT nobusawasumihito adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT yokoohideaki adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 AT kinouchihiroyuki adultcaseofsellaratypicalteratoidrhabdoidtumorpresentingwithlungmetastasisharboringacompoundheterozygousmutationinini1 |