Carney complex with PRKAR1A gene mutation
@article{Liu2017CarneyCW, title={Carney complex with PRKAR1A gene mutation}, author={Qiuli Liu and Dali Tong and Gaolei Liu and Yu-ting Yi and Dianzheng Zhang and Jun Zhang and Yao Zhang and Zaoming Huang and Yaoming Li and Rongrong Chen and Yanfang Guan and Xin Yi and Jun Jiang}, journal={Medicine}, year={2017}, volume={96} }
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 purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin…
14 Citations
Complejo de Carney: reporte de un caso y revisión de la literatura
- Iatreia
- 2022
El complejo de Carney es una enfermedad caracterizada por lesiones en la piel, tumores endocrinos, ardiacos, gonadales y en otros órganos, que está asociada con mutaciones del gen PRKAR1A.…
Non-Canonical Allostery in Cyclic Nucleotide Dependent Kinases.
- BiologyJournal of molecular biology
- 2022
Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma
- BiologyCancers
- 2022
Simple Summary Sixteen G-protein-coupled receptors (GPCRs) have been involved in melanogenesis or melanomagenesis. Here, we review these GPCRs, their associated signaling, and therapies. Abstract…
Palatal Soft Tissue Myxoma in a Patient with Carney Complex
- MedicineHead and Neck Pathology
- 2020
A case of a palatal myxoma in a 21-year-old female patient with CNC, presented with a sessile nodule on the hard palate that microscopically showed a multilobulated and highly vascularized myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells, suggestive of myxoid neurofibroma is presented.
Recurrent cardiac and skin myxomas along with acromegaly: A case report of carney complex
- MedicineARYA atherosclerosis
- 2020
For patients with recurrent cardiac myxomas, especially with skin myxoma, the diagnosis of CNC should be considered and the search for other associations should be done even in an asymptomatic patient.
Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model
- Medicine, BiologyPloS one
- 2020
There is a significant unmet need for a safe and effective therapy for the treatment of children with congenital hyperinsulinism. We hypothesized that amplification of the glucagon signaling pathway…
Mixoma Atrial Recorrente em Paciente com Complexo de Carney. Relato de Caso e Revisão de Literatura
- MedicineArquivos Brasileiros de Cardiologia
- 2020
Coexistence of Two Endocrine Abnormalities: Pituitary Stalk Interruption Syndrome (PSIS) and Cushing Syndrome
- Medicine, Biology
- 2019
A 38-year-old woman with sporadic PSIS presenting with cortisol excess was referred to the authors' hospital for further assessment of cortisol excess and may serve to deepen the understanding about the disease spectrum of PSIS.
[Expression of plasma microRNA in patients with acromegaly].
- Medicine, BiologyProblemy endokrinologii
- 2019
A single-center, case-control study to assess plasma microRNA expression in patients with active acromegaly compared with healthy controls found four microRNAs, which could potentially be downregulated in plasma of patients with acromEGaly.
References
SHOWING 1-10 OF 743 REFERENCES
Epithelial-myoepithelial carcinoma: a population-based survival analysis
- MedicineBMC Ear, Nose and Throat Disorders
- 2018
Epithelial-myoepithelial carcinoma is a malignant, histologically biphasic neoplasm most frequently seen in the parotid gland, and the nodal and distant metastasis rates are low.
Neuroendocrine Carcinoma of the Endometrium: A Clinicopathologic Study of 25 Cases
- MedicineThe American journal of surgical pathology
- 2016
Most of the endometrial NECas were large cell type, mixed with other histotypes, and underrecognized, and may be associated with microsatellite instability.
Diagnosis of Gastrointestinal Stromal Tumor (GIST) on Transurethral Resection of the Prostate
- MedicineInternational journal of surgical pathology
- 2011
A case of a 60-year-old man presenting with symptoms mimicking adenomatous hyperplasia of the prostate that was subjected to repeated transurethral prostatectomies is described, emphasizing on the importance of inclusion of GISTs in the differential diagnosis of every spindle cell lesion encountered in the prostate.
Primary pulmonary pleomorphic adenoma. An immunohistochemical study and review of the literature.
- MedicineArchives of pathology & laboratory medicine
- 2003
Its high proliferation index and its immunoreactivity to tumor regulatory gene p16(INK4A) are features that, to the authors' knowledge, have not been reported previously and may have a role in the frequent recurrence of these tumors many years after their apparently complete excision.
Pulmonary sequestration.
- MedicineThe Journal of thoracic and cardiovascular surgery
- 1975
Nine patients with congenital sequestration present, often in the first two decades of life, with recurrent and severe bronchopulmonary infections, especially in the extralobar variety.
Pleomorphic Adenoma of the Trachea Mimicking Bronchial Asthma: Report of a Case
- MedicineSurgery Today
- 2006
The case of a 42-year-old woman who was treated for asthma for 2 years before a diagnosis of pleomorphic adenoma of the trachea was made and no recurrence has been detected in the 5 years since diagnosis is reported.
Pleomorphic adenoma of the trachea in an 8-year-old boy: a case report.
- MedicineJournal of pediatric surgery
- 2006
Carney complex: an update.
- Medicine, BiologyEuropean journal of endocrinology
- 2015
This report reviews CNC, its clinical features, diagnosis, treatment and molecular etiology, including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing's syndrome.
Uterine Neoplasms, Version 1.2018, NCCN Clinical Practice Guidelines in Oncology.
- MedicineJournal of the National Comprehensive Cancer Network : JNCCN
- 2018
Guiding principles for the diagnosis, staging, and treatment of early-stage endometrial carcinoma are discussed as well as evidence for these recommendations.