Somatic PRKAR1A mutation in sporadic atrial myxoma with cerebral parenchymal metastases: a case report.

Background: Atrial myxomas are generally considered benign neoplasms. The majority of tumors are sporadic and less than 10% are associated with an autosomal dominant condition known as the Carney complex, which is most often caused by germline mutation in the gene PRKAR1A. Whether this gene plays a role in the development of sporadic myxomas has been an area of debate, although recent studies have suggested that some fraction of sporadic tumors also carry mutations in PRKARIA.

BRAF-V600E mutant papillary craniopharyngioma dramatically responds to combination BRAF and MEK inhibitors.

We present a patient with BRAF-V600E mutant papillary craniopharyngioma successfully treated with combination BRAF (dabrafenib 150 mg twice daily) and MEK (trametinib 2 mg daily) inhibitors after her unresectable tumor proved refractory to radiation. Serial brain MRIs and PET revealed marked tumor reduction with gradual neurological improvement and permanent panhypopituitarism.

Evaluating exposure to abuse and violence in neurological patients.

Objective: The relationship between abuse and violence and the care of neurological patients is an important topic not often addressed, and studies suggest that most neurologists do not routinely screen patients for abuse. In this pilot study, our aim was to demonstrate a simple and effective strategy for screening patients for exposure to abuse.

Methods: A total of 103 consecutive patients reporting to an academic neurology clinic specializing in autonomic and movement disorders were screened for a history of abuse and violence.