ArticleEndocrine pathology2014
Functional cardiac paraganglioma associated with a rare SDHC mutation.
Article in Endocrine pathology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- The evolving roles of pathologists in paragangliomas and pheochromocytomas.Virchows Archiv : an international journal of pathology · 2026Review
- Advanced imaging of cardiac Paraganglioma: A systematic review.International journal of cardiology. Heart & vasculature · 2024Review
- Diagnosis, Genetics, and Management of 24 Patients With Cardiac Paragangliomas: Experience From a Single Center.Journal of the Endocrine Society · 2023Article
- Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.Endocrine pathology · 2022Review
- Comprehensive review of evaluation and management of cardiac paragangliomas.Heart (British Cardiac Society) · 2020Review
- The Diagnosis and Clinical Significance of Paragangliomas in Unusual Locations.Journal of clinical medicine · 2018Review
- PRECISION MEDICINE: AN UPDATE ON GENOTYPE/BIOCHEMICAL PHENOTYPE RELATIONSHIPS IN PHEOCHROMOCYTOMA/PARAGANGLIOMA PATIENTS.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2017Review
- SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2015Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paragangliomas are catecholamine-secreting tumors external to the adrenal glands, most commonly arising in the head and neck, followed by the abdominal and thoracic cavities. The heart is a rare location for paragangliomas to originate from, with fewer than 50 cases as described in the literature. Functional paragangliomas of the right atrium are even more unusual, with only five cases reported to date. The investigations and therapies of a 41-year-old male presenting with a clinically functional cardiac paraganglioma are discussed. We performed a detailed pathology review of the primary cardiac tumor and a lung nodule to examine morphologic changes, along with an immunohistochemical profile (chromogranin A, tyrosine hydroxylase, MIB-1, and succinate dehydrogenase subunit B (SDHB)) of both tumors. Genetic testing of germline mutations in SDH genes was also completed. Both the 9.5-cm cardiac mass and 0.5-cm lung nodule were positive for chromogranin A and tyrosine hydroxylase and showed a global loss of SDHB expression. The MIB-1 labeling index of the smaller lesion and the bulk of the larger lesion was <5 %, but there were cellular foci of the larger lesion that had a labeling index of 10%. Genetic testing yielded an intronic frameshift mutation in the SDHC gene, c.IVS 5 + 1, G > A. We report the first case of a functional cardiac paraganglioma associated with an intronic frameshift SDHC gene mutation.
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Registered trials
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