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Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease

BACKGROUND: Cowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease. CASE PRESENTATION: We describe the case of a 52-year-old woman i...

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Autores principales: Kimura, Fuyo, Ueda, Ai, Sato, Eiichi, Akimoto, Jiro, Kaise, Hiroshi, Yamada, Kimito, Hosonaga, Mari, Kawai, Yuko, Teraoka, Saeko, Okazaki, Miki, Ishikawa, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524662/
https://www.ncbi.nlm.nih.gov/pubmed/28741261
http://dx.doi.org/10.1186/s40792-017-0355-6
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author Kimura, Fuyo
Ueda, Ai
Sato, Eiichi
Akimoto, Jiro
Kaise, Hiroshi
Yamada, Kimito
Hosonaga, Mari
Kawai, Yuko
Teraoka, Saeko
Okazaki, Miki
Ishikawa, Takashi
author_facet Kimura, Fuyo
Ueda, Ai
Sato, Eiichi
Akimoto, Jiro
Kaise, Hiroshi
Yamada, Kimito
Hosonaga, Mari
Kawai, Yuko
Teraoka, Saeko
Okazaki, Miki
Ishikawa, Takashi
author_sort Kimura, Fuyo
collection PubMed
description BACKGROUND: Cowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease. CASE PRESENTATION: We describe the case of a 52-year-old woman in whom a tumor was diagnosed in the left cerebellar hemisphere and treated by surgical resection. Phosphatase and tensin homolog (PTEN) mutation in exon 8 insertion was found in the brain tumor tissue and leukocytes. This finding supported the diagnosis of Cowden syndrome. She consequently developed endometrial cancer and underwent abdominal total hysterectomy with bilateral salpingo-oophorectomy. Four years later, hormone receptor-positive breast cancer was found in the right breast, and breast-conserving surgery with radiation therapy and sentinel lymph node biopsy was performed. CONCLUSIONS: Herein, we describe a patient who was diagnosed as having familial breast cancer associated with PTEN mutation-related Cowden syndrome. We also reviewed reports of this syndrome in the literature for disease appraisal.
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spelling pubmed-55246622017-08-08 Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease Kimura, Fuyo Ueda, Ai Sato, Eiichi Akimoto, Jiro Kaise, Hiroshi Yamada, Kimito Hosonaga, Mari Kawai, Yuko Teraoka, Saeko Okazaki, Miki Ishikawa, Takashi Surg Case Rep Case Report BACKGROUND: Cowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease. CASE PRESENTATION: We describe the case of a 52-year-old woman in whom a tumor was diagnosed in the left cerebellar hemisphere and treated by surgical resection. Phosphatase and tensin homolog (PTEN) mutation in exon 8 insertion was found in the brain tumor tissue and leukocytes. This finding supported the diagnosis of Cowden syndrome. She consequently developed endometrial cancer and underwent abdominal total hysterectomy with bilateral salpingo-oophorectomy. Four years later, hormone receptor-positive breast cancer was found in the right breast, and breast-conserving surgery with radiation therapy and sentinel lymph node biopsy was performed. CONCLUSIONS: Herein, we describe a patient who was diagnosed as having familial breast cancer associated with PTEN mutation-related Cowden syndrome. We also reviewed reports of this syndrome in the literature for disease appraisal. Springer Berlin Heidelberg 2017-07-24 /pmc/articles/PMC5524662/ /pubmed/28741261 http://dx.doi.org/10.1186/s40792-017-0355-6 Text en © The Author(s). 2017 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.
spellingShingle Case Report
Kimura, Fuyo
Ueda, Ai
Sato, Eiichi
Akimoto, Jiro
Kaise, Hiroshi
Yamada, Kimito
Hosonaga, Mari
Kawai, Yuko
Teraoka, Saeko
Okazaki, Miki
Ishikawa, Takashi
Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease
title Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease
title_full Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease
title_fullStr Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease
title_full_unstemmed Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease
title_short Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease
title_sort hereditary breast cancer associated with cowden syndrome-related pten mutation with lhermitte-duclos disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524662/
https://www.ncbi.nlm.nih.gov/pubmed/28741261
http://dx.doi.org/10.1186/s40792-017-0355-6
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