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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...

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Autores principales: 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
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
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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.
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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
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