1. Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F‐FDOPA PET/CT study
- Author
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Pauline Romanet, Ugo Scemama, David Taïeb, Frederic Sebag, Karel Pacak, Arthur Varoquaux, Frederic Castinetti, Anderson Loundou, Nicolas Fakhry, Anne Barlier, Marion Montava, Jean‐Pierre Lavieille, Vincent Amodru, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d’imagerie médicale [Hôpital Nord - APHM], Hôpital Nord [CHU - APHM], Laboratoire de Biomécanique Appliquée (LBA UMR T24), Aix Marseille Université (AMU)-Université Gustave Eiffel, ORL et Chirurgie cervico-faciale pédiatrique - [Hôpitaux Timone et Nord - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)- Hôpital Nord [CHU - APHM], Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité d'Aide Méthodologique, Assistance Publique - Hôpitaux de Marseille (APHM)-CHU Marseille, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Centre de Recherche en Cancérologie de Marseille (CRCM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, and Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
Male ,Vagus Nerve Diseases ,Fluorine Radioisotopes ,Heterozygote ,medicine.medical_specialty ,SDHB ,030209 endocrinology & metabolism ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC] ,medicine.disease_cause ,Carotid paraganglioma ,Article ,Neoplasms, Multiple Primary ,03 medical and health sciences ,0302 clinical medicine ,Paraganglioma ,Positron Emission Tomography Computed Tomography ,medicine ,[SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO] ,Humans ,Cranial Nerve Neoplasms ,ComputingMilieux_MISCELLANEOUS ,Retrospective Studies ,Paraganglioma, Extra-Adrenal ,Mutation ,PET-CT ,business.industry ,Age Factors ,Vagus Nerve ,Middle Aged ,medicine.disease ,Phenotype ,Dihydroxyphenylalanine ,3. Good health ,Vagus nerve ,Succinate Dehydrogenase ,Otorhinolaryngology ,Head and Neck Neoplasms ,030220 oncology & carcinogenesis ,Female ,SDHD ,Radiology ,business - Abstract
BACKGROUND: (18)F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the relationship between tumor characteristics and the SDHx-mutational status in a large series of patients with HNPGL evaluated by (18)F-FDOPA PET/CT. METHODS: A total of 104 patients with HNPGL (65 sporadic/39 SDHx-mutated) were included. RESULTS: In comparison to SDHB/SDC/SDHx-negative cases, patients with SDHD were younger at diagnosis and had a higher rate of multifocal, vagal, and carotid paraganglioma. In patients with SDHD, vagal paraganglia represented the primary site of tumor origin. Multicentric involvement of the vagus nerve alone or in association with other locations was found to be a typical feature of SDHD cases compared to other cases (odds ratio = 59.4). CONCLUSION: The present study shows that tumor multifocality within the vagus nerve is a phenotypic marker of SDHD mutation. This information is essential in the choice of the therapeutic strategy.
- Published
- 2018