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Published on: August 25, 2023
Pheochromocytoma and paraganglioma: molecular testing and personalized medicine
Nelly Burnichon1, Alexandre Buffet, Anne-Paule Gimenez-Roqueplo
1aINSERM, UMR970, Paris-Cardiovascular Research Center bFaculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité cAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Department of Genetics, Paris, France.
Purpose Of Review:
Pheochromocytomas and paragangliomas (PPGLs) are rare tumours, strongly associated with inherited susceptibility gene mutations, and presenting limited therapeutic options for patients with metastatic disease. This review discusses the recent developments in the characterization of PPGL genetic heterogeneity and associated tumorigenesis pathways, together with their potential clinical relevance.
Recent Findings:
The mutational landscape of PPGL is now well defined, especially with the contribution of next-generation sequencing. Up to 70% of these tumours harbour a germline or a somatic mutation in one of the numerous predisposing genes. In parallel, 'omics' analyses have identified mutation-linked subsets of tumours substantially associated with molecular signatures suggesting new therapeutic targets for patients with a malignant transformation of the disease.
Summary:
In the near future, extended molecular testing of PPGL could be used to determine therapeutic approaches and assess diagnosis and prognosis biomarkers. Considering the current development of next-generation sequencing-based genetic screening, this technology appears as a good option to improve both PPGL molecular diagnosis and patient management.
Insights
Genetic mutations drive rare pheochromocytomas and paragangliomas (PPGLs), with new molecular insights offering potential therapeutic targets for metastatic disease. Advanced genetic testing promises improved diagnosis and patient management.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Pheochromocytomas and paragangliomas (PPGLs) are rare tumors often linked to inherited genetic mutations.
- Limited therapeutic options exist for patients with metastatic PPGLs.
Purpose of the Study:
- To review recent advancements in characterizing PPGL genetic heterogeneity and tumorigenesis pathways.
- To discuss the clinical relevance of these developments for patient care.
Main Methods:
- Review of current literature on PPGL genetics.
- Analysis of next-generation sequencing and 'omics' data in PPGL.
Main Results:
- The mutational landscape of PPGLs is well-defined, with up to 70% harboring germline or somatic mutations.
- 'Omics' analyses reveal molecular signatures linked to specific mutations, suggesting novel therapeutic targets for malignant PPGLs.
Conclusions:
- Extended molecular testing, including next-generation sequencing, can guide therapeutic strategies for PPGLs.
- Genetic screening improves PPGL molecular diagnosis, prognosis assessment, and overall patient management.
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