Linked Life Data

20119652

Source:http://linkedlifedata.com/resource/pubmed/id/20119652

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2010-8-16
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1573-7292
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
443-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.
pubmed:affiliation
Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London, SW17 0RE, UK.
pubmed:publicationType
Journal Article, Case Reports