Carney Triad

2013 ◽  
pp. 92-110 ◽  
Author(s):  
J.Aidan Carney
Keyword(s):  
Carney Triad

Carney Triad

2020 ◽  
Author(s):  
Keyword(s):  
Carney Triad

scholarly journals SDHB immunohistochemistry: a useful tool in the diagnosis of Carney–Stratakis and Carney triad gastrointestinal stromal tumors

2010 ◽  
Vol 24 (1) ◽  
pp. 147-151 ◽  
Author(s):  
José Gaal ◽  
Constantine A Stratakis ◽  
J Aidan Carney ◽  
Evan R Ball ◽  
Esther Korpershoek ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Stromal Tumors ◽  
Carney Triad

Exome Sequencing in Patients with Carney Triad Reveals Genetic Variations in Functionally Relevant Pathways

2011 ◽  
pp. P3-45-P3-45
Author(s):  
Anelia D Horvath ◽  
Christopher Wassif ◽  
Evan Ball ◽  
Monalisa Azevedo ◽  
Sumeeta Singh ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Genetic Variations ◽  
Carney Triad

scholarly journals A Case of Carney Triad Complicated by Renal Cell Carcinoma and a Germline SDHA Pathogenic Variant

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A985-A985
Author(s):  
Rachel Wurth ◽  
Abhishek Jha ◽  
Crystal Kamilaris ◽  
Anthony J Gill ◽  
Nicola Poplawski ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Systolic Pressure ◽  
Pathogenic Variant ◽  
Renal Lesion ◽  
Positive Staining ◽  
Carney Triad ◽  
18F Fdg

Abstract Background: Carney triad is a rare multiple-neoplasia syndrome presenting as an association of paragangliomas (PGL), gastrointestinal stromal tumors (GIST), and pulmonary chondromas (CHO). Succinate dehydrogenase deficiency has been associated with several neoplasias, including Carney triad, renal cell carcinoma (RCC) and those associated with hereditary PGL/ pheochromocytoma (PHEO) syndromes. Clinical Case: A 57-year-old male diagnosed with hypertension at age 49, presented with a gradual increase in blood pressure over a period of 12 months. For seven years following his diagnosis of hypertension, the patient experienced episodic increases in blood pressure, to a systolic pressure greater than 180 mmHg associated with a tight band sensation around his forehead lasting half a day. Abdominal computed tomography (CT) revealed a left adrenal adenoma, a 5.1 cm para-aortic mass, and a right renal superior pole lesion measuring 2.5 cm, which was suspicious for a carcinoma. 123I-metaiodobenzylguanidine (123I-MIBG) and 18F-fluorodeoxyglucose-positron emission tomography (18F-FDG-PET) scans were performed, which suggested the para-aortic mass to be consistent with a PGL. Additionally, 18F-FDG uptake was noted in the gastroesophageal region and was suspicious for a GIST. The left adrenal mass was not associated with 123I-MIBG or 18F-FDG activity. Chest CT demonstrated a right middle lobe lung lesion suggestive of a CHO, although no biopsy was performed. A diagnosis of Carney triad was made. The patient underwent surgical resection of the PGL and GIST, as well as a partial right nephrectomy. The PGL and GIST were positive for SDHA and negative for SDHB by immunohistochemical (IHC) staining. Pathology from the renal lesion was consistent with a 2.3 cm conventional clear cell renal carcinoma, with positive staining for SDHA and SDHB by IHC. The patient was found to harbor a germline heterozygous pathogenic variant (c.91 C>T, p.R31X) in SDHA which has been previously reported and results in loss of function of SDHA. SHDC hypermethylation was not detected in the PGL, GIST, or RCC. Additionally, DNA sequencing of the RCC did not indicate loss of heterozygosity at the variant region of interest. Although the SDHA disease-causing variant is responsible for the patients Carney triad phenotype, it is unclear if this variant is causative of the RCC. Conclusion: This is a novel presentation of a germline inactivating SDHA pathogenic variant in a patient with Carney triad complicated by RCC. However, an SDHA disease-causing variant was previously reported in a patient with comorbid GIST and RCC. This case provides further support to the increasing evidence that SDHx pathogenic variants may predispose patients to develop renal neoplasms.

scholarly journals Carney triad

2020 ◽  
Author(s):  
Keyword(s):  
Carney Triad

scholarly journals Multiple Pulmonary Chondromas in a Young Female Patient: A Component of Carney Triad

2009 ◽  
Vol 4 (6) ◽  
pp. 751-752 ◽  
Author(s):  
Gui-Bin Qiao ◽  
Wei-Sheng Zeng ◽  
Li-Jun Peng ◽  
Wen-Zhao Zhong ◽  
Yi Fang ◽  
...  
Keyword(s):  
Female Patient ◽  
Young Female ◽  
Carney Triad

Carney Triad

2010 ◽  
pp. 806-816
Author(s):  
Edward C. Rosenow
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Stromal Tumor ◽  
Identical Twin ◽  
Carney Triad ◽  
Pulmonary Chondroma ◽  
Extra Adrenal Paraganglioma

1. Pulmonary chondroma 2. Gastrointestinal stromal tumor (GIST), formerly, gastric epithelioid leiomyosarcoma 3. Functioning extra-adrenal paraganglioma • Triad eventually present in more than half of patients • 〉90% of patients are female • Mean age: 17 years • Mechanism: unknown (disease absent in 1 identical twin)...

scholarly journals Carney Triad in an Adult with Aggressive Behavior: The First Case in Korea

2009 ◽  
Vol 50 (5) ◽  
pp. 709 ◽  
Author(s):  
Hye-Jong Song ◽  
Kyoung-Mee Kim ◽  
Dong Il Choi ◽  
Cheol Keun Park
Keyword(s):  
Aggressive Behavior ◽  
Carney Triad ◽  
First Case
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