Microinsertions 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).

NKX6-1 Is a Novel Immunohistochemical Marker for Pancreatic and Duodenal Neuroendocrine Tumors.

NKX6-1 is a homeobox transcription factor participating in the development and regulation of endocrine function of pancreatic islets. This study evaluated the potential use of NKX6-1 as a diagnostic marker for well-differentiated neuroendocrine tumors (WDNETs). In total, 178 primary and 26 metastatic WDNETs of different origins were analyzed through immunohistochemistry for NKX6-1, TTF-1, CDX2, ISL1, and polyclonal PAX8.