scholarly journals Hereditary Tumours

2013 ◽  
Vol 2013 ◽  
pp. 1-2
Author(s):  
Francesco Baudi
Keyword(s):  
Hereditary Tumours

scholarly journals Precision Medicine in Phaeochromocytoma and Paraganglioma

2021 ◽  
Vol 11 (11) ◽  
pp. 1239
Author(s):  
Bettina Winzeler ◽  
Benjamin G. Challis ◽  
Ruth T. Casey
Keyword(s):  
Adverse Effects ◽  
Precision Medicine ◽  
Somatic Mutations ◽  
Neuroendocrine Tumours ◽  
Molecular Profiling ◽  
Malignant Potential ◽  
Precision Oncology ◽  
Molecular Characterisation ◽  
Uncertain Malignant Potential ◽  
Hereditary Tumours

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.

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