Paragangliomas are extra-adrenal tumours that arise from the autonomic-paraganglia. Pheochromocytomas can be considered intra-adrenal paragangliomas and are indistinguishable at the cellular-level. The majority of paragangliomas appear to be sporadic. However, at least one-third are associated with inherited-syndromes including succinate-dehydrogenase mutations, multiple-endocrine-neoplasia, neurofibromatosis, and von Hippel-Lindau disease. Genetic-testing in this patient was positive for a known deleterious mutation in succinate-dehydrogenase subunit-B (c.88delC).Cardiac-paraganglioma are rare and usually located near the left-atrium. Approximately 90% are benign and most are cured by complete excision. There are no reliable histological criteria to differentiate benign from malignant paragangliomas and malignancy is determined by tumour behaviour rather than histological appearance. Diagnosis requires a combination of biochemical and genetic-testing aided by multimodality-imaging.

Succinate dehydrogenase gene mutation with cardiac paraganglioma: multimodality imaging and pathological correlation

ROMANO, Simone;FAVA, Cristiano;MINUZ, Pietro;
2017-01-01

Abstract

Paragangliomas are extra-adrenal tumours that arise from the autonomic-paraganglia. Pheochromocytomas can be considered intra-adrenal paragangliomas and are indistinguishable at the cellular-level. The majority of paragangliomas appear to be sporadic. However, at least one-third are associated with inherited-syndromes including succinate-dehydrogenase mutations, multiple-endocrine-neoplasia, neurofibromatosis, and von Hippel-Lindau disease. Genetic-testing in this patient was positive for a known deleterious mutation in succinate-dehydrogenase subunit-B (c.88delC).Cardiac-paraganglioma are rare and usually located near the left-atrium. Approximately 90% are benign and most are cured by complete excision. There are no reliable histological criteria to differentiate benign from malignant paragangliomas and malignancy is determined by tumour behaviour rather than histological appearance. Diagnosis requires a combination of biochemical and genetic-testing aided by multimodality-imaging.
heart
paraganglioma
succinate dehydrogenase
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/975136
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