title: Metastatic paraganglioma.
abstract: Paragangliomas (PGLs) are chromaffin cell tumors arising from ganglia; when arising in the adrenal gland they are called pheochromocytomas. In recent years the opinion that metastatic disease is rare in PGL had to be revised, particularly in patients presenting with extra-adrenal PGL, with PGLs exceeding 5 cm in diameter, and/or those carrying an SDHB germline mutation. Metastases are expected to be present at the time of diagnosis in more than 10% of these patients. Measurement of plasma and urinary metanephrine levels is well established in diagnosing PGL. Recently, a dopaminergic phenotype (excess dopamine or methoxytyramine) was recognized as a good indicator of metastatic disease. Vast progress in targeted positron emission tomography (PET) imaging (eg, (18)F-FDA, (18)F-FDOPA, (18)F-FDG) now allows for reliable early detection of metastatic disease. However, once metastases are present, treatment options are limited. Survival of patients with metastatic PGL is variable, and frequently short. Here we review recent advances involving findings about the genetic background, the molecular pathogenesis, new diagnostic indicators, pathologic markers, and emerging treatment options for metastatic PGL.
authors.affiliation: Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892–1109, USA.
authors.forename: Stephanie M J
authors.initials: SM
authors.lastname: Fliedner
authors.forename: Hendrik
authors.initials: H
authors.lastname: Lehnert
authors.forename: Karel
authors.initials: K
authors.lastname: Pacak
mesh_terms: D000328:Adult; D000367:Age Factors; D000971:Antineoplastic Combined Chemotherapy Protocols; D014408:Biomarkers, Tumor; D002648:Child; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D058990:Molecular Targeted Therapy; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics / Q000556:secondary* / Q000628:therapy; D049268:Positron-Emission Tomography; D000071250:Snail Family Transcription Factors; D013385:Succinate Dehydrogenase / Q000235:genetics / Q000378:metabolism; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase