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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...

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Autores principales: Fujimoto, Akihiro, Sakakibara, Ayaka, Numajiri, Yoshiki, Matsuura, Kazuo, Kawasaki, Tomonori, Osaki, Akihiko, Saeki, Toshiaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
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.
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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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