Carney triad can be (rarely) associated with germline succinate dehydrogenase defects

@article{Boikos2016CarneyTC,
  title={Carney triad can be (rarely) associated with germline succinate dehydrogenase defects},
  author={S. Boikos and P. Xekouki and E. Fumagalli and F. Faucz and M. Raygada and E. Szarek and E. Ball and S. Y. Kim and M. Miettinen and L. Helman and J. Carney and K. Pacak and C. Stratakis},
  journal={European Journal of Human Genetics},
  year={2016},
  volume={24},
  pages={569-573}
}
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… Expand
A case of Carney triad complicated by renal cell carcinoma and a germline SDHA pathogenic variant
TLDR
This is the first reported case of an SDHA pathogenic variant in a patient with Carney triad complicated by RCC, and it is likely indicated the SDHA variant would not be causative of the R CC, but could still predispose to the development of neoplasias. Expand
Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome
TLDR
The relationship between succinate dehydrogenase (SDH) deficiency and the epigenome is reviewed, especially with regards to two clinical conditions and the main clinical features and molecular mechanisms behind those two syndromes that share quite a bit of similarities. Expand
The Case of the Index Patient of Carney Triad: A Clinical Puzzle With an Epigenetic Solution
Carney triad is a rare, multitumoral, nonfamilial syndrome of unknown etiology. First described in 1977, it features epithelioid gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenalExpand
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance.
TLDR
PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. Expand
Familial endocrine tumours: pheochromocytomas and extra-adrenal paragangliomas – an update
TLDR
An overview of the various syndromes and the genes involved is given, concluding with recommendations for genetic testing in the current era of genome wide analysis. Expand
Bronchial Paraganglioma with SDHB Deficiency
TLDR
The histological examination revealed a nested proliferation of medium-sized cells expressing neuroendocrine markers (chromogranin A and synaptophysin) and the neoplastic cells failed to express SDHB gene product, leading to the final diagnosis of bronchial paraganglioma in the setting of Carney-Stratakis syndrome. Expand
Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases
TLDR
SDH-deficient GISTs account for approximately 8% of gastrointestinal stromal tumors and are associated with a high rate of distant metastasis, regardless of conventional risk category. Expand
Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report
TLDR
All patients diagnosed with WT GISTs should be referred to a hereditary cancer genetic counseling unit regardless of the age at presentation or the absence of a suspicious family history, as this is the first published report in which the c.1A > C; p.(Met1?) pathogenic variant in the SDHA is associated with a GIST. Expand
The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms
TLDR
The physiologic functions of these metabolic enzymes, the mutational spectrum, and associated functional alterations will be discussed, with a focus on mesenchymal tumor predisposition syndromes. Expand
Paragangliomas of the Head and Neck: An Overview from Diagnosis to Genetics
TLDR
SDHB immunohistochemical evaluation is an excellent screening tool to detect tumors with alterations in the SDH family of genes that represent the majority of hereditary cases in HNPGL. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 26 REFERENCES
The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney–Stratakis syndrome): molecular genetics and clinical implications
TLDR
The findings were consistent with a common genetic aetiology of these two tumours in CT, and have clinical implications for patients with GISTs that are cKIT‐ and PDGFRA‐mutation negative: these tumours are usually resistant to treatment with currently available tyrosine kinase inhibitors and may be part of a syndrome such as CT or CSS. Expand
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients
TLDR
The difficulty in distinguishing between Carney triad and Carney Stratakis syndrome due to the rarity of the individual components makes it difficult to differentiate confidently between the two conditions. Expand
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.
TLDR
Investigating the possibility that patients with CT and/or their tumors may harbor mutations of the SDHB, SDHC, SDHD, KIT, and PDGFRA genes and identifying any other genetic alterations in CT tumors concluded that CT is not due to SDH-inactivating or KIT- andPDGFRA-activating mutations. Expand
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad
TLDR
DNA methylation patterns in CpG islands in proximity to the gene loci of all four SDH subunits suggest epigenetic inactivation of the SDHC gene locus, which was not present in tumors of patients with CSS or PGL, or in sporadic GISTs with KIT mutations. Expand
Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty
TLDR
This work presents the approach for counseling these families at risk for developing malignancies in the context of the current uncertainties, while striving to maintain patient autonomy. Expand
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30‐year‐old mystery
TLDR
A 30‐year follow‐up on the family of a deceased patient who synchronously developed malignant neuroblastoma (NBL), PCC, and renal cell carcinoma (RCC) is presented, suggesting study of the SDH genes in NBL survivors who develop secondary solid tumors, particularly RCC, may correct this bias, and provide for more effective and comprehensive tumor screening in this patient population. Expand
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
TLDR
WT GISTs, particularly those in younger patients, have defects in SDH mitochondrial complex II, and in a subset of these patients, GIST seems to arise from germline-inactivating SDH mutations. Expand
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad.
TLDR
It is suggested that a new syndrome exists with paraganglioma and gastric stromal sarcoma, a condition that is familial and distinct from the Carney triad. Expand
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
TLDR
Using Sdhb(+/-) mice, it is provided evidence that pituitary hyperplasia in SDHx-deficient cells may be the initial abnormality in the cascade of events leading to PA formation, and the existence of a new association that is termed 3PAs is confirmed. Expand
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors.
  • J. Carney
  • Medicine
  • The Journal of clinical endocrinology and metabolism
  • 2009
TLDR
The Carney triad is a chronic, persistent, indolent but sometimes fatal disorder of unknown etiology. Expand
...
1
2
3
...