Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients

Alrashdi, Ismail; Bano, Gul; Maher, Eamonn R.; Hodgson, Shirley

doi:10.1007/s10689-010-9323-z

Cited by 19 publications

(6 citation statements)

References 12 publications

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“…It is an autosomal dominantly inherited dyad of familial paraganglioma and gastric stromal sarcoma (no pulmonary lesion) with germline mutations in SHD subunits B, C and D. Our report demonstrates the difficulties in distinguishing incomplete Carney triad and Carney-Stratakis syndrome, as also recognised by others [6].…”

Section: Discussionsupporting

confidence: 56%

A rare cause of anaemia associated with hypertension in a 14-year-old girl

et al. 2011

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We report a rare example of anaemia and hypertension due to an incomplete Carney triad in a 14-year-old girl with no previous medical history. This rare non-familial syndrome generally involves two disparate tumours: gastrointestinal stromal tumour, paraganglioma and/or pulmonary chondroma. The complete triad is a syndrome that involves at least five loci: stomach, oeophagus, lung, the paraganglionic system, adrenal (cortex or medulla). The pathogenesis is unclear as these tumours have different embryological origins. Surgical treatment is necessary, and long-term follow-up is advisable as patients with Carney triad may re-present with tumour(s), even several years after the first presentation.

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Section: Discussionsupporting

confidence: 56%

A rare cause of anaemia associated with hypertension in a 14-year-old girl

et al. 2011

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“…22 The combination of NB, PGL and renal cell carcinoma was first described by Fairchild et al 23 Most recently, the case of a patient who was found to have at the same time malignant NB, PHEO and renal cell carcinoma was described; sequence analysis revealed an SDHB mutation. 24 In another patient with NB and a PGL, a germline SDHB gene deletion was found.…”

Section: Discussionmentioning

confidence: 97%

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

et al. 2015

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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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“…Germline mutations of SDH, as seen in CSS, result in autosomal dominant inherited cancer syndromes with variable clinical presentations and metastatic potential [13] . Therefore, genetic testing provides a definitive diagnosis of CSS and should be utilized for early detection of the syndrome in immediate family members and descendants [1 , 5 , 14] .…”

Section: Discussionmentioning

confidence: 99%

Carney-Stratakis Syndrome presenting as occult mediastinal paraganglioma

Bailey

Sharma

Parent

2020

Radiology Case Reports

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Carney-Stratakis Syndrome is defined as the combination of a paraganglioma and a gastrointestinal stromal tumor. This is recognized as unique from the more commonly known Carney Triad, which in addition to the above also has a pulmonary chondroma present. We present a case of Carney-Stratakis Syndrome which highlights the value of multimodality imaging in arriving at the diagnosis, as well as the role of genetic testing for definitively differentiating it from the more commonly recognized Carney Triad.

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Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients

Cited by 19 publications

References 12 publications

A rare cause of anaemia associated with hypertension in a 14-year-old girl

A rare cause of anaemia associated with hypertension in a 14-year-old girl

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

Carney-Stratakis Syndrome presenting as occult mediastinal paraganglioma

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