Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas
نویسندگان
چکیده
منابع مشابه
[Cardiac myxomas and the Carney complex].
The study involved 63 patients with an echocardiographic, surgical and histopathologic diagnosis of cardiac myxoma who were seen over a period of 20 years. Tumor recurrence or relapse was documented in five of these patients (7.9%), 3 of whom had a confirmed diagnosis of Carney complex, while one other patient had a probable diagnosis. Genetic studies demonstrated abnormalities in the PRKAR1A g...
متن کاملRecurrent somatic mutations of PRKAR1A in isolated cardiac myxoma
Background Cardiac myxomas are benign tumors that commonly arise within the left atria. Familial cardiac myxomas are a part of Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome caused by germline mutations in PRKAR1A. Seven percent of cardiac myxomas are associated with CNC. To date, the genetic basis of isolated cardiac myxomas (ICM), however, has not been fully elucidate...
متن کاملCarney complex with PRKAR1A gene mutation
RATIONALE Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS A 16-year-old boy was admitted because of excessive weight gain over 3 years and p...
متن کاملNovel Mutation in PRKAR1A in Carney Complex
A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase...
متن کاملCase studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG
Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in r...
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ژورنال
عنوان ژورنال: Endocrine-Related Cancer
سال: 2020
ISSN: 1351-0088,1479-6821
DOI: 10.1530/erc-19-0517