Cargando…
Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report
Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney. Renal cell carcinoma occurs in 2%–4% of patients with tuberous sclerosis complex, often developing multiply and bil...
Autores principales: | , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8149899/ https://www.ncbi.nlm.nih.gov/pubmed/34055654 http://dx.doi.org/10.3389/fonc.2021.691996 |
_version_ | 1783698046400331776 |
---|---|
author | Yamamoto, Tetsuya Kato, Taigo Hatano, Koji Kawashima, Atsunari Ujike, Takeshi Fukuhara, Shinichiro Kiuchi, Hiroshi Imamura, Ryoichi Ibuki, Naokazu Kiyotani, Kazuma Kurashige, Masako Morii, Eichi Fujita, Kazutoshi Nonomura, Norio Uemura, Motohide |
author_facet | Yamamoto, Tetsuya Kato, Taigo Hatano, Koji Kawashima, Atsunari Ujike, Takeshi Fukuhara, Shinichiro Kiuchi, Hiroshi Imamura, Ryoichi Ibuki, Naokazu Kiyotani, Kazuma Kurashige, Masako Morii, Eichi Fujita, Kazutoshi Nonomura, Norio Uemura, Motohide |
author_sort | Yamamoto, Tetsuya |
collection | PubMed |
description | Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney. Renal cell carcinoma occurs in 2%–4% of patients with tuberous sclerosis complex, often developing multiply and bilaterally. Renal cell carcinoma associated with this genetic disorder may include complex tumor heterogeneity caused by the spatially different mutational landscape. Herein, we report the case of a female patient with tuberous sclerosis complex who developed multiple renal tumors. A 44-year-old female patient with tuberous sclerosis complex developed three different histological types of tumor—angiomyolipoma, clear cell renal cell carcinoma, and papillary renal cell carcinoma—in the left kidney at first renal cell carcinoma recurrence. The papillary renal cell carcinoma was morphologically atypical, indicating that its occurrence was associated with the genetic disorder. Furthermore, whole-exome sequencing revealed distinct patterns of somatic mutation in the three tumor types, and the atypical papillary renal cell carcinoma possessed a different mutational landscape than that of typical papillary renal cell carcinomas. Our findings indicate that tumors associated with tuberous sclerosis complex may be diagnosed with careful pathological examination. Furthermore, somatic mutation profiles of these tumors revealed their unique features, providing important information for further understanding the mechanism of multiple tumor development in patients with tuberous sclerosis complex. |
format | Online Article Text |
id | pubmed-8149899 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-81498992021-05-27 Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report Yamamoto, Tetsuya Kato, Taigo Hatano, Koji Kawashima, Atsunari Ujike, Takeshi Fukuhara, Shinichiro Kiuchi, Hiroshi Imamura, Ryoichi Ibuki, Naokazu Kiyotani, Kazuma Kurashige, Masako Morii, Eichi Fujita, Kazutoshi Nonomura, Norio Uemura, Motohide Front Oncol Oncology Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney. Renal cell carcinoma occurs in 2%–4% of patients with tuberous sclerosis complex, often developing multiply and bilaterally. Renal cell carcinoma associated with this genetic disorder may include complex tumor heterogeneity caused by the spatially different mutational landscape. Herein, we report the case of a female patient with tuberous sclerosis complex who developed multiple renal tumors. A 44-year-old female patient with tuberous sclerosis complex developed three different histological types of tumor—angiomyolipoma, clear cell renal cell carcinoma, and papillary renal cell carcinoma—in the left kidney at first renal cell carcinoma recurrence. The papillary renal cell carcinoma was morphologically atypical, indicating that its occurrence was associated with the genetic disorder. Furthermore, whole-exome sequencing revealed distinct patterns of somatic mutation in the three tumor types, and the atypical papillary renal cell carcinoma possessed a different mutational landscape than that of typical papillary renal cell carcinomas. Our findings indicate that tumors associated with tuberous sclerosis complex may be diagnosed with careful pathological examination. Furthermore, somatic mutation profiles of these tumors revealed their unique features, providing important information for further understanding the mechanism of multiple tumor development in patients with tuberous sclerosis complex. Frontiers Media S.A. 2021-05-12 /pmc/articles/PMC8149899/ /pubmed/34055654 http://dx.doi.org/10.3389/fonc.2021.691996 Text en Copyright © 2021 Yamamoto, Kato, Hatano, Kawashima, Ujike, Fukuhara, Kiuchi, Imamura, Ibuki, Kiyotani, Kurashige, Morii, Fujita, Nonomura and Uemura https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Yamamoto, Tetsuya Kato, Taigo Hatano, Koji Kawashima, Atsunari Ujike, Takeshi Fukuhara, Shinichiro Kiuchi, Hiroshi Imamura, Ryoichi Ibuki, Naokazu Kiyotani, Kazuma Kurashige, Masako Morii, Eichi Fujita, Kazutoshi Nonomura, Norio Uemura, Motohide Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report |
title | Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report |
title_full | Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report |
title_fullStr | Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report |
title_full_unstemmed | Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report |
title_short | Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report |
title_sort | genomic and pathological characterization of multiple renal cell carcinoma regions in patient with tuberous sclerosis complex: a case report |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8149899/ https://www.ncbi.nlm.nih.gov/pubmed/34055654 http://dx.doi.org/10.3389/fonc.2021.691996 |
work_keys_str_mv | AT yamamototetsuya genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT katotaigo genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT hatanokoji genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT kawashimaatsunari genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT ujiketakeshi genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT fukuharashinichiro genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT kiuchihiroshi genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT imamuraryoichi genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT ibukinaokazu genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT kiyotanikazuma genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT kurashigemasako genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT moriieichi genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT fujitakazutoshi genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT nonomuranorio genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport AT uemuramotohide genomicandpathologicalcharacterizationofmultiplerenalcellcarcinomaregionsinpatientwithtuberoussclerosiscomplexacasereport |