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1.
J Med Case Rep ; 13(1): 389, 2019 Dec 25.
Article in English | MEDLINE | ID: mdl-31874650

ABSTRACT

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. Extra-cardiac complications of atrial myxoma include dissemination of tumor to the brain; however, the dissemination of viable invasive tumor cells is exceedingly rare. CASE PRESENTATION: We present here a 48-year-old white woman who developed multiple intracranial hemorrhagic lesions secondary to tumor embolism that progressed to 'false' aneurysm formation and invasion through the vascular wall into brain parenchyma 7 months after resection of an atrial myxoma. Whole exome sequencing of her tumor revealed multiple mutations in PRKAR1A not found in her germline deoxyribonucleic acid (DNA), suggesting that the myxoma in this patient was sporadic. CONCLUSIONS: Our patient illustrates that mutations in PRKAR1A may be found in sporadic lesions. Whether the presence of this mutation affects the clinical behavior of sporadic tumors and increases risk for metastasis is not clear. Regardless, the protein kinase A pathway which is regulated by PRKAR1A represents a possible target for treatment in patients with metastatic cardiac myxomas harboring mutations in the PRKARIA gene.


Subject(s)
Brain Neoplasms/secondary , Carney Complex/diagnosis , Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics , Dopamine Agents/therapeutic use , Heart Neoplasms/diagnosis , Memantine/therapeutic use , Myxoma/diagnosis , Brain Neoplasms/physiopathology , Brain Neoplasms/therapy , Carney Complex/genetics , Chemoradiotherapy , Female , Gene Expression Regulation, Neoplastic , Genes, Tumor Suppressor , Germ-Line Mutation , Heart Neoplasms/physiopathology , Heart Neoplasms/therapy , Humans , Intracranial Hemorrhages , Middle Aged , Myxoma/physiopathology , Myxoma/therapy , Treatment Outcome , Exome Sequencing
2.
CNS Oncol ; 6(2): 95-99, 2017 04.
Article in English | MEDLINE | ID: mdl-28425764

ABSTRACT

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.


Subject(s)
Antineoplastic Agents/therapeutic use , Craniopharyngioma/drug therapy , Craniopharyngioma/genetics , Pituitary Neoplasms/drug therapy , Pituitary Neoplasms/genetics , Proto-Oncogene Proteins B-raf/genetics , Antineoplastic Combined Chemotherapy Protocols , Female , Humans , Imidazoles/therapeutic use , Middle Aged , Mutation/genetics , Oximes/therapeutic use , Protein Kinase Inhibitors/therapeutic use , Pyridones/therapeutic use , Pyrimidinones/therapeutic use
3.
Neurologist ; 19(1): 7-10, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23269099

ABSTRACT

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. A set of 6 questions were included in the standard patient intake questionnaire. The questions were then repeated verbally during the physician history taking. All patients were provided with information on available local resources for abuse counseling during the visit. Retrospective chart review analysis was performed to determine the prevalence of history of abuse in the population, the most common type of abuse suffered, and the number of individuals reporting current abuse. RESULTS: Twenty-two of the 103 patients (21%) screened for abuse reported exposure to abuse or violence. Two patients with ongoing issues with abuse were identified. The most commonly reported abuse was being a witness to violence (65%), followed by physical abuse (41%), sexual and emotional abuse (36% each), and financial abuse (23%). The neurological disorders most frequently observed in these patients were chronic pain, neuropathy, autonomic dysfunction, headache, and Parkinson disease. CONCLUSIONS: Patients with neurological disorders may have been exposed to abuse and violence. It is important to recognize these issues and address them routinely in the neurological evaluation. A simple, effective way to accomplish screening in the outpatient setting is through the use of an intake questionnaire combined with verbal clarification.


Subject(s)
Autonomic Nervous System Diseases/psychology , Movement Disorders/psychology , Violence/psychology , Autonomic Nervous System Diseases/epidemiology , Child , Child Abuse/psychology , Female , Humans , Male , Mass Screening , Middle Aged , Movement Disorders/epidemiology , Pilot Projects , Retrospective Studies , Sex Offenses/psychology , Spouse Abuse/psychology , Surveys and Questionnaires , Violence/statistics & numerical data
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