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Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome

BACKGROUND: Endometrial cancer that occurs concurrently with peritoneal malignant mesothelioma (PMM) is difficult to diagnose preoperatively. CASE PRESENTATION: A postmenopausal woman had endometrial cancer extending to the cervix, vagina and pelvic lymph nodes, and PMM in bilateral ovaries, cul-de-...

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Autores principales: Chao, Angel, Lai, Chyong-Huey, Lee, Yun-Shien, Ueng, Shir-Hwa, Lin, Chiao-Yun, Wang, Tzu-Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312462/
https://www.ncbi.nlm.nih.gov/pubmed/25588929
http://dx.doi.org/10.1186/s12885-015-1010-x
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author Chao, Angel
Lai, Chyong-Huey
Lee, Yun-Shien
Ueng, Shir-Hwa
Lin, Chiao-Yun
Wang, Tzu-Hao
author_facet Chao, Angel
Lai, Chyong-Huey
Lee, Yun-Shien
Ueng, Shir-Hwa
Lin, Chiao-Yun
Wang, Tzu-Hao
author_sort Chao, Angel
collection PubMed
description BACKGROUND: Endometrial cancer that occurs concurrently with peritoneal malignant mesothelioma (PMM) is difficult to diagnose preoperatively. CASE PRESENTATION: A postmenopausal woman had endometrial cancer extending to the cervix, vagina and pelvic lymph nodes, and PMM in bilateral ovaries, cul-de-sac, and multiple peritoneal sites. Adjuvant therapies included chemotherapy and radiotherapy. Targeted, massively parallel DNA sequencing and molecular inversion probe microarray analysis revealed a germline TP53 mutation compatible with Li-Fraumeni-like syndrome, somatic mutations of PIK3CA in the endometrial cancer, and a somatic mutation of GNA11 and JAK3 in the PMM. Large-scale genomic amplifications and some deletions were found in the endometrial cancer. The patient has been stable for 24 months after therapy. One of her four children was also found to carry the germline TP53 mutation. CONCLUSIONS: Molecular characterization of the coexistent tumors not only helps us make the definite diagnosis, but also provides information to select targeted therapies if needed in the future. Identification of germline TP53 mutation further urged us to monitor future development of malignancies in this patient and encourage cancer screening in her family. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12885-015-1010-x) contains supplementary material, which is available to authorized users.
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spelling pubmed-43124622015-02-01 Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome Chao, Angel Lai, Chyong-Huey Lee, Yun-Shien Ueng, Shir-Hwa Lin, Chiao-Yun Wang, Tzu-Hao BMC Cancer Case Report BACKGROUND: Endometrial cancer that occurs concurrently with peritoneal malignant mesothelioma (PMM) is difficult to diagnose preoperatively. CASE PRESENTATION: A postmenopausal woman had endometrial cancer extending to the cervix, vagina and pelvic lymph nodes, and PMM in bilateral ovaries, cul-de-sac, and multiple peritoneal sites. Adjuvant therapies included chemotherapy and radiotherapy. Targeted, massively parallel DNA sequencing and molecular inversion probe microarray analysis revealed a germline TP53 mutation compatible with Li-Fraumeni-like syndrome, somatic mutations of PIK3CA in the endometrial cancer, and a somatic mutation of GNA11 and JAK3 in the PMM. Large-scale genomic amplifications and some deletions were found in the endometrial cancer. The patient has been stable for 24 months after therapy. One of her four children was also found to carry the germline TP53 mutation. CONCLUSIONS: Molecular characterization of the coexistent tumors not only helps us make the definite diagnosis, but also provides information to select targeted therapies if needed in the future. Identification of germline TP53 mutation further urged us to monitor future development of malignancies in this patient and encourage cancer screening in her family. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12885-015-1010-x) contains supplementary material, which is available to authorized users. BioMed Central 2015-01-15 /pmc/articles/PMC4312462/ /pubmed/25588929 http://dx.doi.org/10.1186/s12885-015-1010-x Text en © Chao et al.; licensee BioMed Central. 2015 This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Chao, Angel
Lai, Chyong-Huey
Lee, Yun-Shien
Ueng, Shir-Hwa
Lin, Chiao-Yun
Wang, Tzu-Hao
Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome
title Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome
title_full Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome
title_fullStr Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome
title_full_unstemmed Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome
title_short Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome
title_sort molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in li-fraumeni-like syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312462/
https://www.ncbi.nlm.nih.gov/pubmed/25588929
http://dx.doi.org/10.1186/s12885-015-1010-x
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