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Carney complex with multiple breast tumours including breast cancer: a case report
Carney complex (CNC) is a rare multiple tumour syndrome characterized by cutaneous pigmented lesions, myxoma and endocrine tumours, among others, and is inherited as an autosomal dominant trait. Protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) is known to be the responsible ge...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235021/ https://www.ncbi.nlm.nih.gov/pubmed/35769184 http://dx.doi.org/10.1093/omcr/omac063 |
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author | Fujimoto, Akihiro Sakakibara, Ayaka Numajiri, Yoshiki Matsuura, Kazuo Kawasaki, Tomonori Osaki, Akihiko Saeki, Toshiaki |
author_facet | Fujimoto, Akihiro Sakakibara, Ayaka Numajiri, Yoshiki Matsuura, Kazuo Kawasaki, Tomonori Osaki, Akihiko Saeki, Toshiaki |
author_sort | Fujimoto, Akihiro |
collection | PubMed |
description | Carney complex (CNC) is a rare multiple tumour syndrome characterized by cutaneous pigmented lesions, myxoma and endocrine tumours, among others, and is inherited as an autosomal dominant trait. Protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) is known to be the responsible gene. Breast myxomatosis and ductal adenoma, which are regarded as benign, are well-known mammary lesions of CNC and are included in the main diagnostic criteria. In this case, a 59-year-old woman with repeated cardiac myxoma was diagnosed with CNC with PRKAR1A mutation. She also had three multiple breast tumours bilaterally: breast cancer, adenomyoepithelioma and intraductal papilloma. In mammary lesions of CNC, attention should be paid to benign lesions, such as breast myxomatosis or ductal adenomas, and the development of breast cancer or breast tumours with malignant potential. Mammary lesions should be aggressively scrutinized and considered for resection, as required. |
format | Online Article Text |
id | pubmed-9235021 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-92350212022-06-28 Carney complex with multiple breast tumours including breast cancer: a case report Fujimoto, Akihiro Sakakibara, Ayaka Numajiri, Yoshiki Matsuura, Kazuo Kawasaki, Tomonori Osaki, Akihiko Saeki, Toshiaki Oxf Med Case Reports Case Report Carney complex (CNC) is a rare multiple tumour syndrome characterized by cutaneous pigmented lesions, myxoma and endocrine tumours, among others, and is inherited as an autosomal dominant trait. Protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) is known to be the responsible gene. Breast myxomatosis and ductal adenoma, which are regarded as benign, are well-known mammary lesions of CNC and are included in the main diagnostic criteria. In this case, a 59-year-old woman with repeated cardiac myxoma was diagnosed with CNC with PRKAR1A mutation. She also had three multiple breast tumours bilaterally: breast cancer, adenomyoepithelioma and intraductal papilloma. In mammary lesions of CNC, attention should be paid to benign lesions, such as breast myxomatosis or ductal adenomas, and the development of breast cancer or breast tumours with malignant potential. Mammary lesions should be aggressively scrutinized and considered for resection, as required. Oxford University Press 2022-06-23 /pmc/articles/PMC9235021/ /pubmed/35769184 http://dx.doi.org/10.1093/omcr/omac063 Text en © The Author(s) 2022. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Fujimoto, Akihiro Sakakibara, Ayaka Numajiri, Yoshiki Matsuura, Kazuo Kawasaki, Tomonori Osaki, Akihiko Saeki, Toshiaki Carney complex with multiple breast tumours including breast cancer: a case report |
title | Carney complex with multiple breast tumours including breast cancer: a case report |
title_full | Carney complex with multiple breast tumours including breast cancer: a case report |
title_fullStr | Carney complex with multiple breast tumours including breast cancer: a case report |
title_full_unstemmed | Carney complex with multiple breast tumours including breast cancer: a case report |
title_short | Carney complex with multiple breast tumours including breast cancer: a case report |
title_sort | carney complex with multiple breast tumours including breast cancer: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235021/ https://www.ncbi.nlm.nih.gov/pubmed/35769184 http://dx.doi.org/10.1093/omcr/omac063 |
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