Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Watanabe, Mototsugu, Tanakaya, Kohji, Furukawa, Shinichi, Shiotani, Toshio, Sato, Yumiko, Taniguchi, Fumitaka, Kanaya, Nobuhiko, Aoki, Hideki, Sugano, Koukichi, Ishida, Hideyuki, Akagi, Kiwamu, Kataoka, Kazuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
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
_version_ 1784907537963810816
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
work_keys_str_mv AT watanabemototsugu twocasesofthymiccancerinpatientswithlynchsyndrome
AT tanakayakohji twocasesofthymiccancerinpatientswithlynchsyndrome
AT furukawashinichi twocasesofthymiccancerinpatientswithlynchsyndrome
AT shiotanitoshio twocasesofthymiccancerinpatientswithlynchsyndrome
AT satoyumiko twocasesofthymiccancerinpatientswithlynchsyndrome
AT taniguchifumitaka twocasesofthymiccancerinpatientswithlynchsyndrome
AT kanayanobuhiko twocasesofthymiccancerinpatientswithlynchsyndrome
AT aokihideki twocasesofthymiccancerinpatientswithlynchsyndrome
AT suganokoukichi twocasesofthymiccancerinpatientswithlynchsyndrome
AT ishidahideyuki twocasesofthymiccancerinpatientswithlynchsyndrome
AT akagikiwamu twocasesofthymiccancerinpatientswithlynchsyndrome
AT kataokakazuhiko twocasesofthymiccancerinpatientswithlynchsyndrome