KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors

NF1‐mutated melanoma tumors harbor distinct clinical and biological characteristics

In general, melanoma can be considered as a UV-driven disease with an aggressive metastatic course and high mutational load, with only few tumors (acral, mucosal, and uveal melanomas) not induced by sunlight and possessing a lower mutational load. The most commonly activated pathway in melanoma is the mitogen-activated protein kinase (MAPK) pathway. However, the prognostic significance of mutat...

Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors

Introduction: To address the issue of limited data on and inconsistent findings for genetic alterations in pancreatic neuroendocrine tumors (pNETs), we analyzed sequences of known pNET-associated genes for their impact on clinical outcomes in a Taiwanese cohort. Methods: Tissue samples from 40 patients with sporadic pNETs were sequenced using a customized sequencing panel that analyzed 43 genes...

Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

BACKGROUND Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mu...

Pheochromocytoma and paraganglioma: imaging characteristics

The accurate diagnosis of adult pheochromocytoma and paraganglioma necessitates a multidisciplinary approach that includes clinical history, biochemical testing, and multimodality imaging such as computed tomography, magnetic resonance imaging, and nuclear medicine studies. This review illustrates the different imaging characteristics of primary adult pheochromocytomas as well as both sympathet...

Extraadrenal pheochromocytoma and vagal paraganglioma.