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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2017
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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. |
format | Online Article Text |
id | pubmed-5524662 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
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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