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Somatic mutation landscape of a meningioma and its pulmonary metastasis

BACKGROUND: Extracranial metastasis (ENM) of meningiomas is extremely rare, and typically occurs several years after a primary tumor is diagnosed. However, the genetic changes underlying ENM events have not yet been investigated. CASE PRESENTATION: A 58-year-old male patient was sent to the emergenc...

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Autores principales: Du, Yaran, Lu, Ting, Huang, Song, Ren, Fangfang, Cui, Gang, Chen, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993143/
https://www.ncbi.nlm.nih.gov/pubmed/29764516
http://dx.doi.org/10.1186/s40880-018-0291-2
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author Du, Yaran
Lu, Ting
Huang, Song
Ren, Fangfang
Cui, Gang
Chen, Jian
author_facet Du, Yaran
Lu, Ting
Huang, Song
Ren, Fangfang
Cui, Gang
Chen, Jian
author_sort Du, Yaran
collection PubMed
description BACKGROUND: Extracranial metastasis (ENM) of meningiomas is extremely rare, and typically occurs several years after a primary tumor is diagnosed. However, the genetic changes underlying ENM events have not yet been investigated. CASE PRESENTATION: A 58-year-old male patient was sent to the emergency room of our hospital because of a sudden fall. Magnetic resonance imaging detected a mass at the right frontal sagittal sinus. He underwent tumor resection and recovered well, but post-operative computed tomography revealed three lumps on the right side of his chest. Thoracic surgery was performed to remove two of the lumps. Pathological findings revealed that the brain and lung tumors were grade I meningiomas. The patient received no additional radiation or chemotherapy post-surgery, and there was no sign of tumor recurrence in the brain or progression of the remaining lump in the chest 1 year after surgery. We performed whole exome sequencing of the patient’s blood, primary brain tumor, and lung metastatic tumor tissues to identify somatic genetic alterations that had occurred during ENM. This revealed that a frameshift deletion of the neurofibromin 2 gene likely drove formation of the meningioma. Surprisingly, we found that the brain tumor was relatively homogeneous and contained only one dominant clone; both the pulmonary metastasis and the original brain tumor were derived from the same clone, and no obvious additional driver mutations were detected in the metastatic tumor. CONCLUSION: Although ENM of meningiomas is very rare, brain tumor cells appear to be more adaptable to tissue microenvironments outside of the central nervous system than was commonly thought.
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spelling pubmed-59931432018-06-21 Somatic mutation landscape of a meningioma and its pulmonary metastasis Du, Yaran Lu, Ting Huang, Song Ren, Fangfang Cui, Gang Chen, Jian Cancer Commun (Lond) Case Report BACKGROUND: Extracranial metastasis (ENM) of meningiomas is extremely rare, and typically occurs several years after a primary tumor is diagnosed. However, the genetic changes underlying ENM events have not yet been investigated. CASE PRESENTATION: A 58-year-old male patient was sent to the emergency room of our hospital because of a sudden fall. Magnetic resonance imaging detected a mass at the right frontal sagittal sinus. He underwent tumor resection and recovered well, but post-operative computed tomography revealed three lumps on the right side of his chest. Thoracic surgery was performed to remove two of the lumps. Pathological findings revealed that the brain and lung tumors were grade I meningiomas. The patient received no additional radiation or chemotherapy post-surgery, and there was no sign of tumor recurrence in the brain or progression of the remaining lump in the chest 1 year after surgery. We performed whole exome sequencing of the patient’s blood, primary brain tumor, and lung metastatic tumor tissues to identify somatic genetic alterations that had occurred during ENM. This revealed that a frameshift deletion of the neurofibromin 2 gene likely drove formation of the meningioma. Surprisingly, we found that the brain tumor was relatively homogeneous and contained only one dominant clone; both the pulmonary metastasis and the original brain tumor were derived from the same clone, and no obvious additional driver mutations were detected in the metastatic tumor. CONCLUSION: Although ENM of meningiomas is very rare, brain tumor cells appear to be more adaptable to tissue microenvironments outside of the central nervous system than was commonly thought. BioMed Central 2018-05-04 /pmc/articles/PMC5993143/ /pubmed/29764516 http://dx.doi.org/10.1186/s40880-018-0291-2 Text en © The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Du, Yaran
Lu, Ting
Huang, Song
Ren, Fangfang
Cui, Gang
Chen, Jian
Somatic mutation landscape of a meningioma and its pulmonary metastasis
title Somatic mutation landscape of a meningioma and its pulmonary metastasis
title_full Somatic mutation landscape of a meningioma and its pulmonary metastasis
title_fullStr Somatic mutation landscape of a meningioma and its pulmonary metastasis
title_full_unstemmed Somatic mutation landscape of a meningioma and its pulmonary metastasis
title_short Somatic mutation landscape of a meningioma and its pulmonary metastasis
title_sort somatic mutation landscape of a meningioma and its pulmonary metastasis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993143/
https://www.ncbi.nlm.nih.gov/pubmed/29764516
http://dx.doi.org/10.1186/s40880-018-0291-2
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