ArticleEuropean journal of human genetics : EJHG2016
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 68 citations in OpenAlex.
- Metabolic Effects of Succinate Dehydrogenase Loss in Cancer.Journal of cellular physiology · 2025Review
- Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.Frontiers in oncology · 2023Article
- [Mesenchymal tumors and tumor-like lesions of the gastrointestinal tract: an overview].Der Pathologe · 2022Review
- Carney's triad in an adult male from a tertiary care center in India: a case report.Journal of medical case reports · 2021Article
- Approach to the Patient With Adrenal Incidentaloma.The Journal of clinical endocrinology and metabolism · 2021Review
- What Have We Learned from Molecular Biology of Paragangliomas and Pheochromocytomas?Endocrine pathology · 2021Review
- Therapeutic Potential of PI3K/AKT/mTOR Pathway in Gastrointestinal Stromal Tumors: Rationale and Progress.Cancers · 2020Review
- Pheochromocytoma and paraganglioma-an update on diagnosis, evaluation, and management.Pediatric nephrology (Berlin, Germany) · 2020Review
- Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance.Archives of endocrinology and metabolism · 2019Article
- SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.Scientific reports · 2019Article
- Clinical Diagnosis of Gastrointestinal Stromal Tumor (GIST): From the Molecular Genetic Point of View.Cancers · 2019Review
- An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.Endocrine connections · 2019Article
- Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.Clinical epigenetics · 2019Article
- Article
- Germline c.1A>C heterozygous pathogenic variant inHereditary cancer in clinical practice · 2019Article
- An update on adrenal endocrinology: significant discoveries in the last 10 years and where the field is heading in the next decade.Hormones (Athens, Greece) · 2018Review
- Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome.Molecular and cellular endocrinology · 2018Review
- The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.Laboratory investigation; a journal of technical methods and pathology · 2018Review
- When should genetic testing be performed in patients with neuroendocrine tumours?Reviews in endocrine & metabolic disorders · 2017Review
- Paragangliomas of the Head and Neck: An Overview from Diagnosis to Genetics.Head and neck pathology · 2017Review
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas, is a sporadic condition that is significantly more frequent in females; its genetic etiology remains unknown. Carney triad is distinct from the dyad of paragangliomas/pheochromocytomas and gastrointestinal stromal tumors, known as Carney-Stratakis syndrome, which is inherited in an autosomal- dominant manner and is almost always caused by succinate dehydrogenase subunit mutations. In the present study, we investigated the largest cohort of Carney triad patients that is available internationally: 63 unrelated patients. Six patients (9.5%) were found to have germline variants in the SDHA, SDHB or SDHC genes. All six patients, except one, had multifocal gastrointestinal stromal tumors, chondromas and/or paragangliomas. A patient with Carney triad and SDHC variant had a ganglioneuroma. One of the patients with Carney triad and SDHB mutation had a nephew with the same sequence defect, who developed a neuroblastoma. Other relatives, carriers of the identified SDHA, SDHB or SDHC mutations, have not developed any of the components of Carney triad or Carney-Stratakis syndrome. None of the other 57 Carney triad patients had any genomic defects of SDHA, SDHB or SDHC genes. We conclude that, in rare occasions, Carney triad can be allelic to Carney-Stratakis syndrome. Although for the vast majority of patients with Carney triad the causative defect(s) remain(s) unknown, testing for SDHA, SDHB or SDHC variations should be offered, as carriers may develop isolated paragangliomas/pheochromocytomas and occasionally other tumors.
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