Recurrent somatic mutations of PRKAR1A in isolated cardiac myxoma
نویسندگان
چکیده
منابع مشابه
Recurrent 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: Multiple resections of recurrent cardiac myxoma
We report a case of a female patient who was operated at the third relapse of an atrial myxoma caused by Carney complex. The difficult operation was performed without any complications despite extensive adhesions caused by the previous operations. The further inpatient course went without complications and the patient was discharged to the consecutive treatment on the 9th postoperative day. The...
متن کاملRecurrent Facial Palsy as an Initial Presentation of Cardiac Myxoma
Facial palsy in childhood may result from a variety of diseases. However, it rarely presents initially as cardiac myxoma. In this article, we report on a 12-year-old boy who suffered from recurrent facial palsy as the initial clinical manifestation, which resolved spontaneously within several days of hospital admission. The predisposing factor of the symptom was physical exercise. Brain magneti...
متن کاملMicroinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma.
Cardiac myxoma is the most common cardiac tumour. Most lesions occur sporadically, but occasional lesions develop in patients with Carney complex, a syndrome characterized by cardiac myxoma, spotty pigmentation, and endocrine overactivity. Two-thirds of patients with Carney complex harbour germline mutations in PRKAR1A, which encodes the type I regulatory subunit of protein kinase A (PKA). Most...
متن کاملRecurrent somatic DICER1 mutations in nonepithelial ovarian cancers.
BACKGROUND Germline truncating mutations in DICER1, an endoribonuclease in the RNase III family that is essential for processing microRNAs, have been observed in families with the pleuropulmonary blastoma-family tumor and dysplasia syndrome. Mutation carriers are at risk for nonepithelial ovarian tumors, notably sex cord-stromal tumors. METHODS We sequenced the whole transcriptomes or exomes ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Oncotarget
سال: 2017
ISSN: 1949-2553
DOI: 10.18632/oncotarget.21916