ArticleBMC medical genomics2020
Multiple paragangliomas: a case report.
Article in BMC medical genomics, 2020. 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.
- Immunohistochemistry and Mutation Analysis ofInternational journal of molecular sciences · 2020Trial
- Concurrent head and neck paragangliomas and pulmonary carcinoid tumor: A rare clinical entity.Radiology case reports · 2026Article
- Multiple paragangliomas diagnosed in head, neck, and mediastinum: a case report.Diagnostic pathology · 2025Article
- Multiple Primary Paragangliomas in a Pediatric Patient With von Hippel Lindau: A Diagnostic Dilemma.JCEM case reports · 2024Article
- TheInternational journal of molecular sciences · 2022Article
- Somatic Mutation Profiling in Head and Neck Paragangliomas.The Journal of clinical endocrinology and metabolism · 2022Article
- Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas.Life (Basel, Switzerland) · 2021Review
- Medical genomics at the Systems Biology and Bioinformatics (SBB-2019) school.BMC medical genomics · 2020Article
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Authors and funding
18 authors.
Funding
Abstract
backgroundCarotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk, respectively. Both tumors can occur jointly as multiple paragangliomas accounting for approximately 10 to 20% of all head and neck paragangliomas. However, molecular and genetic mechanisms underlying the pathogenesis of multiple paragangliomas remain elusive. CASE PRESENTATION: We report a case of multiple paragangliomas in a patient, manifesting as bilateral CPGL and unilateral VPGL. Tumors were revealed via computed tomography and ultrasound study and were resected in two subsequent surgeries. Both CPGLs and VPGL were subjected to immunostaining for succinate dehydrogenase (SDH) subunits and exome analysis. A likely pathogenic germline variant in the SDHD gene was indicated, while likely pathogenic somatic variants differed among the tumors.
conclusionsThe identified germline variant in the SDHD gene seems to be a driver in the development of multiple paragangliomas. However, different spectra of somatic variants identified in each tumor indicate individual molecular mechanisms underlying their pathogenesis.
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