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Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report

Lynch syndrome is an autosomal dominant inherited disorder caused by a germline pathogenic variant in DNA mismatch repair genes, resulting in multi-organ cancer. Annual transvaginal ultrasonography and endometrial biopsy are recommended for endometrial cancer surveillance in patients with Lynch synd...

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Autores principales: Umemiya, Maki, Horikawa, Naoki, Kanai, Ami, Saeki, Ayaka, Ida, Kohei, Makio, Satoru, Yoshida, Teruki, Tsuji, Mitsuru, Gou, Rei, Tani, Hirohiko, Usui, Takeshi, Kosaka, Kenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625814/
https://www.ncbi.nlm.nih.gov/pubmed/37933313
http://dx.doi.org/10.1159/000531837
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author Umemiya, Maki
Horikawa, Naoki
Kanai, Ami
Saeki, Ayaka
Ida, Kohei
Makio, Satoru
Yoshida, Teruki
Tsuji, Mitsuru
Gou, Rei
Tani, Hirohiko
Usui, Takeshi
Kosaka, Kenzo
author_facet Umemiya, Maki
Horikawa, Naoki
Kanai, Ami
Saeki, Ayaka
Ida, Kohei
Makio, Satoru
Yoshida, Teruki
Tsuji, Mitsuru
Gou, Rei
Tani, Hirohiko
Usui, Takeshi
Kosaka, Kenzo
author_sort Umemiya, Maki
collection PubMed
description Lynch syndrome is an autosomal dominant inherited disorder caused by a germline pathogenic variant in DNA mismatch repair genes, resulting in multi-organ cancer. Annual transvaginal ultrasonography and endometrial biopsy are recommended for endometrial cancer surveillance in patients with Lynch syndrome in several guidelines; however, evidence is limited. Here, we present the case of a 51-year-old woman with endometrial cancer who underwent robot-assisted laparoscopic simple hysterectomy at an early stage detected by Lynch syndrome surveillance. The patient was a 51-year-old gravida zero woman without any medical history or symptoms. Her sister suffered from bladder, breast, rectal, and endometrial cancer and was diagnosed with Lynch syndrome using a hereditary cancer panel test (VistaSeq®). During gynecologic surveillance, the patient’s endometrial cytology was classified as Papanicolaou class III. Therefore, she underwent endometrial curettage with hysteroscopy and was diagnosed with atypical endometrial hyperplasia. Robot-assisted hysterectomy was performed with a final pathological diagnosis of endometrial cancer (endometrioid carcinoma, Grade 1), stage 1A. She has remained disease-free for more than 12 months. Owing to advances in genetic medicine, prophylactic and therapeutic surgeries for hereditary cancers are increasing. To achieve an early diagnosis and treatment of Lynch syndrome-associated cancers, the importance of Lynch syndrome surveillance should be more widely recognized.
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spelling pubmed-106258142023-11-06 Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report Umemiya, Maki Horikawa, Naoki Kanai, Ami Saeki, Ayaka Ida, Kohei Makio, Satoru Yoshida, Teruki Tsuji, Mitsuru Gou, Rei Tani, Hirohiko Usui, Takeshi Kosaka, Kenzo Case Rep Oncol Case Report Lynch syndrome is an autosomal dominant inherited disorder caused by a germline pathogenic variant in DNA mismatch repair genes, resulting in multi-organ cancer. Annual transvaginal ultrasonography and endometrial biopsy are recommended for endometrial cancer surveillance in patients with Lynch syndrome in several guidelines; however, evidence is limited. Here, we present the case of a 51-year-old woman with endometrial cancer who underwent robot-assisted laparoscopic simple hysterectomy at an early stage detected by Lynch syndrome surveillance. The patient was a 51-year-old gravida zero woman without any medical history or symptoms. Her sister suffered from bladder, breast, rectal, and endometrial cancer and was diagnosed with Lynch syndrome using a hereditary cancer panel test (VistaSeq®). During gynecologic surveillance, the patient’s endometrial cytology was classified as Papanicolaou class III. Therefore, she underwent endometrial curettage with hysteroscopy and was diagnosed with atypical endometrial hyperplasia. Robot-assisted hysterectomy was performed with a final pathological diagnosis of endometrial cancer (endometrioid carcinoma, Grade 1), stage 1A. She has remained disease-free for more than 12 months. Owing to advances in genetic medicine, prophylactic and therapeutic surgeries for hereditary cancers are increasing. To achieve an early diagnosis and treatment of Lynch syndrome-associated cancers, the importance of Lynch syndrome surveillance should be more widely recognized. S. Karger AG 2023-08-16 /pmc/articles/PMC10625814/ /pubmed/37933313 http://dx.doi.org/10.1159/000531837 Text en © 2023 The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY) (http://www.karger.com/Services/OpenAccessLicense). Usage, derivative works and distribution are permitted provided that proper credit is given to the author and the original publisher.
spellingShingle Case Report
Umemiya, Maki
Horikawa, Naoki
Kanai, Ami
Saeki, Ayaka
Ida, Kohei
Makio, Satoru
Yoshida, Teruki
Tsuji, Mitsuru
Gou, Rei
Tani, Hirohiko
Usui, Takeshi
Kosaka, Kenzo
Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report
title Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report
title_full Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report
title_fullStr Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report
title_full_unstemmed Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report
title_short Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report
title_sort endometrial cancer diagnosed at an early stage during lynch syndrome surveillance: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625814/
https://www.ncbi.nlm.nih.gov/pubmed/37933313
http://dx.doi.org/10.1159/000531837
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