Precision Medicine in Phaeochromocytoma and Paraganglioma

Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours wi...

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Autores principales:	Bettina Winzeler, Benjamin G. Challis, Ruth T. Casey
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	personalized medicine neuroendocrine tumours phaeochromocytoma paraganglioma molecular clusters Medicine R
Acceso en línea:	https://doaj.org/article/be36081f9f60490aabd51605884ee8f3
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spelling	oai:doaj.org-article:be36081f9f60490aabd51605884ee8f32021-11-25T18:08:17ZPrecision Medicine in Phaeochromocytoma and Paraganglioma10.3390/jpm111112392075-4426https://doaj.org/article/be36081f9f60490aabd51605884ee8f32021-11-01T00:00:00Zhttps://www.mdpi.com/2075-4426/11/11/1239https://doaj.org/toc/2075-4426Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours with uncertain malignant potential. Over recent years, the molecular profiling of PPGLs has increased our understanding of the mechanisms that drive tumorigenesis. A high proportion of PPGLs are hereditary, with non-hereditary tumours commonly harbouring somatic mutations in known susceptibility genes. Through detailed interrogation of genotype-phenotype, correlations PPGLs can be classified into three different subgroups or clusters. Thus, PPGLs serve as an ideal paradigm for developing, testing and implementing precision medicine concepts in the clinic. In this review, we provide an overview of PPGLs and highlight how detailed molecular characterisation of these tumours provides current and future opportunities for precision oncology.Bettina WinzelerBenjamin G. ChallisRuth T. CaseyMDPI AGarticlepersonalized medicineneuroendocrine tumoursphaeochromocytomaparagangliomamolecular clustersMedicineRENJournal of Personalized Medicine, Vol 11, Iss 1239, p 1239 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	personalized medicine neuroendocrine tumours phaeochromocytoma paraganglioma molecular clusters Medicine R
spellingShingle	personalized medicine neuroendocrine tumours phaeochromocytoma paraganglioma molecular clusters Medicine R Bettina Winzeler Benjamin G. Challis Ruth T. Casey Precision Medicine in Phaeochromocytoma and Paraganglioma
description	Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours with uncertain malignant potential. Over recent years, the molecular profiling of PPGLs has increased our understanding of the mechanisms that drive tumorigenesis. A high proportion of PPGLs are hereditary, with non-hereditary tumours commonly harbouring somatic mutations in known susceptibility genes. Through detailed interrogation of genotype-phenotype, correlations PPGLs can be classified into three different subgroups or clusters. Thus, PPGLs serve as an ideal paradigm for developing, testing and implementing precision medicine concepts in the clinic. In this review, we provide an overview of PPGLs and highlight how detailed molecular characterisation of these tumours provides current and future opportunities for precision oncology.
format	article
author	Bettina Winzeler Benjamin G. Challis Ruth T. Casey
author_facet	Bettina Winzeler Benjamin G. Challis Ruth T. Casey
author_sort	Bettina Winzeler
title	Precision Medicine in Phaeochromocytoma and Paraganglioma
title_short	Precision Medicine in Phaeochromocytoma and Paraganglioma
title_full	Precision Medicine in Phaeochromocytoma and Paraganglioma
title_fullStr	Precision Medicine in Phaeochromocytoma and Paraganglioma
title_full_unstemmed	Precision Medicine in Phaeochromocytoma and Paraganglioma
title_sort	precision medicine in phaeochromocytoma and paraganglioma
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/be36081f9f60490aabd51605884ee8f3
work_keys_str_mv	AT bettinawinzeler precisionmedicineinphaeochromocytomaandparaganglioma AT benjamingchallis precisionmedicineinphaeochromocytomaandparaganglioma AT ruthtcasey precisionmedicineinphaeochromocytomaandparaganglioma
_version_	1718411582067703808

Precision Medicine in Phaeochromocytoma and Paraganglioma

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