Personalized management of pheochromocytoma and paraganglioma,Endocrine Reviews

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Personalized management of pheochromocytoma and paraganglioma
Endocrine Reviews ( IF 20.3 ) Pub Date : 2021-06-19 , DOI: 10.1210/endrev/bnab019
Svenja Nölting _{1,

2} , Nicole Bechmann _{3,

4} , David Taieb ₅ , Felix Beuschlein _{1,

2} , Martin Fassnacht ₆ , Matthias Kroiss _{2,

6} , Graeme Eisenhofer _{3,

4} , Ashley Grossman _{7,

8,

9} , Karel Pacak ₁₀

Affiliation

Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), CH-8091 Zurich, Switzerland.
Department of Medicine IV, University Hospital, LMU Munich, 80336 Munich, Germany.
Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.
Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.
Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, 13273 Marseille, France.
Department of Medicine, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, 97080 Würzburg, Germany.
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX2 6HG, UK.
Centre for Endocrinology, Barts and the London School of Medicine, London EC1M 6BQ, UK.
ENETS Centre of Excellence, Royal Free Hospital, London NW3 2QG, UK.
Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Rockville, MD 20847, USA.

Pheochromocytomas/paragangliomas are characterized by a unique molecular landscape that allows their assignment to clusters depending on underlying genetic alterations. With around 30-35% of Caucasian patients (a lower percentage in the Chinese population) showing germline mutations in susceptibility genes, pheochromocytomas/paragangliomas have the highest rate of heritability among all tumors. A further 35-40% of Caucasian patients (a higher percentage in the Chinese population) are affected by somatic driver-mutations. Thus, around 70% of all patients with pheochromocytoma/paraganglioma can be assigned to one of three main molecular clusters with different phenotypes and clinical behavior. Krebs cycle/VHL/EPAS1-related cluster 1 tumors tend to a noradrenergic biochemical phenotype, and require very close follow-up due to the risk of metastasis and recurrence. In contrast, kinase signaling-related cluster 2 tumors are characterized by an adrenergic phenotype and episodic symptoms, with generally a less aggressive course. The clinical correlates of patients with Wnt signaling-related cluster 3 tumors are currently poorly described, but aggressive behavior seems likely. In this review, we explore and explain why cluster-specific (personalized) management of pheochromocytoma/paraganglioma is essential to ascertain clinical behavior and prognosis, guide individual diagnostic procedures (biochemical interpretation, choice of the most sensitive imaging modalities), and personalized management and follow-up. Although cluster-specific therapy of inoperable/metastatic disease has not yet entered routine clinical practice, we suggest that informed personalized genetic-driven treatment should be implemented as a logical next step. This review amalgamates published guidelines and expert views within each cluster for a coherent individualized patient management plan.

更新日期：2021-06-20

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