| Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. | |
| | |
MedLine Citation:
|
PMID: 20119652 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Carney triad is a usually sporadic association of pulmonary chondroma, gastrointestinal stromal tumours, and paraganglioma. The majority of patients have two of these tumours, the gastric and pulmonary tumours being the most common combination. Carney Stratakis syndrome is an association of familial paraganglioma and gastric stromal sarcoma and it is considered to be a distinct condition from Carney triad as it is dominantly inherited and not associated with pulmonary chondroma. We report two unrelated patients each with two components of Carney triad. A pathological mutation in succinate dehydrogenase subunit B gene was identified in one and a variant in the same gene was identified in the other. This report demonstrates the difficulty in distinguishing between Carney triad and Carney Stratakis syndrome due to the rarity of the individual components. The fact that most patients with Carney triad have only two components of the Triad, and the long interval often seen between the occurrence of the first and the second component makes it difficult to differentiate confidently between the two conditions. Molecular information should improve the diagnosis of Carney triad. |
| | |
Authors:
|
Ismail Alrashdi; Gul Bano; Eamonn R Maher; Shirley V Hodgson |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Familial cancer Volume: 9 ISSN: 1573-7292 ISO Abbreviation: Fam. Cancer Publication Date: 2010 Sep |
Date Detail:
|
Created Date: 2010-08-16 Completed Date: 2010-12-02 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 100898211 Medline TA: Fam Cancer Country: Netherlands |
Other Details:
|
Languages: eng Pagination: 443-7 Citation Subset: IM |
Affiliation:
|
Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London, SW17 0RE, UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adrenal Gland Neoplasms
/
genetics,
pathology Adult Carcinoma, Basal Cell / genetics, pathology Carney Complex / genetics*, pathology* Chondroma / genetics, pathology Female Gastrointestinal Stromal Tumors / genetics, pathology Humans Lung Neoplasms / genetics, pathology Male Middle Aged Paraganglioma / genetics, pathology Pheochromocytoma / genetics, pathology Skin Neoplasms / genetics, pathology Succinate Dehydrogenase / genetics* |
| Chemical | |
Reg. No./Substance:
|
EC 1.3.5.1/SDHB protein, human; EC 1.3.99.1/Succinate Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: "I have always believed I was at high risk..." The role of expectation in emotional responses to the...
Next Document: Docking flexible ligands in proteins with a solvent exposure- and distance-dependent dielectric func...