ArticleEndocrine connections2021
Composite pheochromocytoma/paraganglioma-ganglioneuroma: analysis of SDH and ATRX status, and identification of frequent HRAS and BRAF mutations.
Article in Endocrine connections, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Pheochromocytoma With Langerhans Cell Histiocytosis: A Rare Tumor-in-Tumor Case.Clinical case reports · 2026Article
- The clinical spectrum of adrenal ganglioneuromas extends from severe hypertension to an asymptomatic incidentaloma; two cases and mini review of literature.Hormones (Athens, Greece) · 2025Review
- Composite pheochromocytoma of the adrenal gland-a review of published cases.Virchows Archiv : an international journal of pathology · 2023Review
- The Complex Histopathological and Immunohistochemical Spectrum of Neuroendocrine Tumors-An Overview of the Latest Classifications.International journal of molecular sciences · 2023Review
- Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases.Frontiers in endocrinology · 2022Article
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Authors and funding
6 authors.
Funding
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Abstract
introductionComposite pheochromocytoma/paraganglioma (CP) is a rare neoplasm with most cases presented as single reports. Little is known about its pathogenesis and relationship with ordinary pheochromocytoma (PCC) or paraganglioma (PGL). Our study is aimed at analyzing the status of SDH and ATRX and identifying novel genetic changes in CP.
methodsEighteen CP cases were collected. SDH and ATRX status was screened by immunohistochemistry. Targeted region sequencing (TRS) was successfully performed on formalin-fixed paraffin-embedded tissues in two cases within 3 years. Based on the TRS result, Sanger sequencing of BRAF and HRAS was performed in fifteen cases (including the two cases with TRS performed), with three cases excluded due to the limited amount of tissue.
resultsHistopathologically, all the cases were composite PCC/PGL-ganglioneuroma (GN). The GN components were either closely admixed or juxtaposed with the PCC/PGL components, with a highly variable percentage (10-80%). All cases stained positive for SDHB and ATRX. HRAS and BRAF mutations were identified during TRS. In the subsequent Sanger sequencing, 20.0% (3/15) harbored BRAF mutations (K601E and K601N) and 46.7% (7/15) harbored HRAS mutations (Q61R, Q61L, G13R). The mutation rates were both significantly higher than reported in ordinary PCC/PGL.
conclusionsWe demonstrated that composite PCC/PGL-GN might be a unique entity with frequent HRAS and BRAF mutations rather than genetic changes of SDH and ATRX. Our findings revealed the possible pathogenesis of composite PCC/PGL-GN and provided clues for potential treatment targets.
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