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Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome

BACKGROUND: Somatic PTEN mutation occurs in a proportion of ovarian endometrioid carcinomas. However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS). CASE PRESENTATION: The present case was a 39-year-old woman with a left ovar...

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Autores principales: Matsubayashi, Hiroyuki, Higashigawa, Satomi, Kiyozumi, Yoshimi, Horiuchi, Yasue, Hirashima, Yasuyuki, Kado, Nobuhiro, Abe, Masato, Ohishi, Takuma, Ohnami, Sumiko, Urakami, Kenichi, Yamaguchi, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819610/
https://www.ncbi.nlm.nih.gov/pubmed/31664961
http://dx.doi.org/10.1186/s12885-019-6272-2
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author Matsubayashi, Hiroyuki
Higashigawa, Satomi
Kiyozumi, Yoshimi
Horiuchi, Yasue
Hirashima, Yasuyuki
Kado, Nobuhiro
Abe, Masato
Ohishi, Takuma
Ohnami, Sumiko
Urakami, Kenichi
Yamaguchi, Ken
author_facet Matsubayashi, Hiroyuki
Higashigawa, Satomi
Kiyozumi, Yoshimi
Horiuchi, Yasue
Hirashima, Yasuyuki
Kado, Nobuhiro
Abe, Masato
Ohishi, Takuma
Ohnami, Sumiko
Urakami, Kenichi
Yamaguchi, Ken
author_sort Matsubayashi, Hiroyuki
collection PubMed
description BACKGROUND: Somatic PTEN mutation occurs in a proportion of ovarian endometrioid carcinomas. However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS). CASE PRESENTATION: The present case was a 39-year-old woman with a left ovarian carcinoma who demonstrated a germline splice variant of PTEN (c.1026 + 1G > T) following genome-wide whole exome sequencing of her germline DNA. Histology of her resected tumor revealed endometrioid carcinoma of the same type as a right ovarian cancer resected eight years previously. These tumors showed null immunostaining for PTEN. She was genetically diagnosed with CS. Despite her clinical examinations had demonstrated several characteristic findings of CS, including mammary fibroma, esophageal and skin papilloma, colonic hamartoma, uterine myoma, and lipoma, the clinicians could not approach this diagnosis. CONCLUSION: Ovarian endometrioid carcinoma is generally thought to develop from endometrial tissue menstruated from the uterus and implanted on the ovary. To date, ovarian cancers have not been listed as CS-related cancers; however, ovarian endometrioid cancer can have a potential association with CS in endometriosis cases.
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spelling pubmed-68196102019-10-31 Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome Matsubayashi, Hiroyuki Higashigawa, Satomi Kiyozumi, Yoshimi Horiuchi, Yasue Hirashima, Yasuyuki Kado, Nobuhiro Abe, Masato Ohishi, Takuma Ohnami, Sumiko Urakami, Kenichi Yamaguchi, Ken BMC Cancer Case Report BACKGROUND: Somatic PTEN mutation occurs in a proportion of ovarian endometrioid carcinomas. However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS). CASE PRESENTATION: The present case was a 39-year-old woman with a left ovarian carcinoma who demonstrated a germline splice variant of PTEN (c.1026 + 1G > T) following genome-wide whole exome sequencing of her germline DNA. Histology of her resected tumor revealed endometrioid carcinoma of the same type as a right ovarian cancer resected eight years previously. These tumors showed null immunostaining for PTEN. She was genetically diagnosed with CS. Despite her clinical examinations had demonstrated several characteristic findings of CS, including mammary fibroma, esophageal and skin papilloma, colonic hamartoma, uterine myoma, and lipoma, the clinicians could not approach this diagnosis. CONCLUSION: Ovarian endometrioid carcinoma is generally thought to develop from endometrial tissue menstruated from the uterus and implanted on the ovary. To date, ovarian cancers have not been listed as CS-related cancers; however, ovarian endometrioid cancer can have a potential association with CS in endometriosis cases. BioMed Central 2019-10-29 /pmc/articles/PMC6819610/ /pubmed/31664961 http://dx.doi.org/10.1186/s12885-019-6272-2 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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
Matsubayashi, Hiroyuki
Higashigawa, Satomi
Kiyozumi, Yoshimi
Horiuchi, Yasue
Hirashima, Yasuyuki
Kado, Nobuhiro
Abe, Masato
Ohishi, Takuma
Ohnami, Sumiko
Urakami, Kenichi
Yamaguchi, Ken
Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome
title Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome
title_full Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome
title_fullStr Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome
title_full_unstemmed Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome
title_short Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome
title_sort metachronous ovarian endometrioid carcinomas in a patient with a pten variant: case report of incidentally detected cowden syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819610/
https://www.ncbi.nlm.nih.gov/pubmed/31664961
http://dx.doi.org/10.1186/s12885-019-6272-2
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