Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas

Abstract

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic/parasympathetic neural ganglia, respectively. The heterogeneity in its etiology makes PPGL diagnosis and treatment very complex. The aim of this article was to provide practical clinical guidelines for the diagnosis and treatment of PPGLs from a multidisciplinary perspective, with the involvement of the Spanish Societies of Endocrinology and Nutrition (SEEN), Medical Oncology (SEOM), Medical Radiology (SERAM), Nuclear Medicine and Molecular Imaging (SEMNIM), Otorhinolaryngology (SEORL), Pathology (SEAP), Radiation Oncology (SEOR), Surgery (AEC) and the Spanish National Cancer Research Center (CNIO). We will review the following topics: epidemiology; anatomy, pathology and molecular pathways; clinical presentation; hereditary predisposition syndromes and genetic counseling and testing; diagnostic procedures, including biochemical testing and imaging studies; treatment including catecholamine blockade, surgery, radiotherapy and radiometabolic therapy, systemic therapy, local ablative therapy and supportive care. Finally, we will provide follow-up recommendations.

Clinical features and treatment of spinal metastatic pheochromocytoma and paraganglioma: a single institutional experience with 18 patients

“…PHEO develops from the adrenal medulla, while PGL arises in extra-adrenal sites, including the abdomen, thorax, head and neck. PPGLs has a low incidence, which is estimated at 2 to 8 cases per million per year, in which PHEOs are more common than PGLs [1,4]. These neoplasms are mostly seen in the age of 4th to 6th decades, and do not show signi cant gender disparity.…”

“…PPGLs have the capacity to synthesize, store, and secrete a variety of neurotransmitters, especially catecholamine, which predispose the patients to symptoms such as hypertension, palpitations, throbbing headaches, and diaphoresis [1,5]. However, their clinical manifestations are extremely variable, depending on locoregional and distant involvement, tumor size, the secretion of catecholamines and function of altitude, and the malignancy potential [1,2,4,6].…”

“…All PPGLs have the potential to metastasis, according to the last WHO classi cation in 2017 [3]. The prevalence of metastasis to non-chroma n organs and structures is estimated 10% in PHEOs and 35-40% in PGLs, relatively [1,4,6,7]. The common metastases include lymph nodes, liver, lung, urinary systems and bone [4,6].…”

“…The prevalence of metastasis to non-chroma n organs and structures is estimated 10% in PHEOs and 35-40% in PGLs, relatively [1,4,6,7]. The common metastases include lymph nodes, liver, lung, urinary systems and bone [4,6]. Spinal involvement is rare and was sporadically reported [8][9][10][11][12][13][14][15][16][17].Currently, no mature guideline on the treatment of metastatic spinal PPGLs exists.Surgical resection is the treatment of choice for the spinal lesions, and a complete resection remains the goal of surgery, which, however, is hard to achieve due to the complex anatomic structures, adjacent to vital organs and heavy bleeding due to hypervascularity [4,7,16,18].…”

“…The common metastases include lymph nodes, liver, lung, urinary systems and bone [4,6]. Spinal involvement is rare and was sporadically reported [8][9][10][11][12][13][14][15][16][17].Currently, no mature guideline on the treatment of metastatic spinal PPGLs exists.Surgical resection is the treatment of choice for the spinal lesions, and a complete resection remains the goal of surgery, which, however, is hard to achieve due to the complex anatomic structures, adjacent to vital organs and heavy bleeding due to hypervascularity [4,7,16,18]. In the present study, we retrospectively reviewed the patients who were consecutively treated in our spinal center and described their clinical features and surgical outcomes.…”