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Two Cases of Thymic Cancer in Patients with Lynch Syndrome
We herein report two cases of thymic cancer with Lynch syndrome showing a high frequency of microsatellite instability and loss of mismatch repair protein expression without MLH1 promoter hyper-methylation. In Case 1, a 71-year-old man had a pathogenic germline variant in MLH1 and underwent tumor re...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017246/ https://www.ncbi.nlm.nih.gov/pubmed/35908972 http://dx.doi.org/10.2169/internalmedicine.9729-22 |
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author | Watanabe, Mototsugu Tanakaya, Kohji Furukawa, Shinichi Shiotani, Toshio Sato, Yumiko Taniguchi, Fumitaka Kanaya, Nobuhiko Aoki, Hideki Sugano, Koukichi Ishida, Hideyuki Akagi, Kiwamu Kataoka, Kazuhiko |
author_facet | Watanabe, Mototsugu Tanakaya, Kohji Furukawa, Shinichi Shiotani, Toshio Sato, Yumiko Taniguchi, Fumitaka Kanaya, Nobuhiko Aoki, Hideki Sugano, Koukichi Ishida, Hideyuki Akagi, Kiwamu Kataoka, Kazuhiko |
author_sort | Watanabe, Mototsugu |
collection | PubMed |
description | We herein report two cases of thymic cancer with Lynch syndrome showing a high frequency of microsatellite instability and loss of mismatch repair protein expression without MLH1 promoter hyper-methylation. In Case 1, a 71-year-old man had a pathogenic germline variant in MLH1 and underwent tumor resection. No relapse has been reported thus far. In Case 2, a 43-year-old man underwent genetic testing that also showed a pathogenic germline variant in MLH1. Since these two cases had MLH variants, we suspect a possible association between thymic cancer with Lynch syndrome and germline pathogenic variants in MLH1. |
format | Online Article Text |
id | pubmed-10017246 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-100172462023-03-16 Two Cases of Thymic Cancer in Patients with Lynch Syndrome Watanabe, Mototsugu Tanakaya, Kohji Furukawa, Shinichi Shiotani, Toshio Sato, Yumiko Taniguchi, Fumitaka Kanaya, Nobuhiko Aoki, Hideki Sugano, Koukichi Ishida, Hideyuki Akagi, Kiwamu Kataoka, Kazuhiko Intern Med Case Report We herein report two cases of thymic cancer with Lynch syndrome showing a high frequency of microsatellite instability and loss of mismatch repair protein expression without MLH1 promoter hyper-methylation. In Case 1, a 71-year-old man had a pathogenic germline variant in MLH1 and underwent tumor resection. No relapse has been reported thus far. In Case 2, a 43-year-old man underwent genetic testing that also showed a pathogenic germline variant in MLH1. Since these two cases had MLH variants, we suspect a possible association between thymic cancer with Lynch syndrome and germline pathogenic variants in MLH1. The Japanese Society of Internal Medicine 2022-07-29 2023-02-15 /pmc/articles/PMC10017246/ /pubmed/35908972 http://dx.doi.org/10.2169/internalmedicine.9729-22 Text en Copyright © 2023 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Watanabe, Mototsugu Tanakaya, Kohji Furukawa, Shinichi Shiotani, Toshio Sato, Yumiko Taniguchi, Fumitaka Kanaya, Nobuhiko Aoki, Hideki Sugano, Koukichi Ishida, Hideyuki Akagi, Kiwamu Kataoka, Kazuhiko Two Cases of Thymic Cancer in Patients with Lynch Syndrome |
title | Two Cases of Thymic Cancer in Patients with Lynch Syndrome |
title_full | Two Cases of Thymic Cancer in Patients with Lynch Syndrome |
title_fullStr | Two Cases of Thymic Cancer in Patients with Lynch Syndrome |
title_full_unstemmed | Two Cases of Thymic Cancer in Patients with Lynch Syndrome |
title_short | Two Cases of Thymic Cancer in Patients with Lynch Syndrome |
title_sort | two cases of thymic cancer in patients with lynch syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017246/ https://www.ncbi.nlm.nih.gov/pubmed/35908972 http://dx.doi.org/10.2169/internalmedicine.9729-22 |
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