Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes.

摘要: Purpose of review About 40% the neuroendocrine tumors pheochromocytomas and paragangliomas (PPGLs) are caused by an inherited mutation. Diagnostic genetic screening is recommended for patients their families. However, number susceptibility genes involved high continues to grow, making conventional sequencing costly burdensome. Next-generation (NGS) enables accurate, thorough, cost-effective identification mutations. Here we recent successes, limitations, future NGS diagnosis pheochromocytoma paraganglioma syndromes. Recent findings NGS-based screen disorders in clinical setting shows improved diagnostic rates over tests. Both broad, whole-exome sequencing, targeted approaches have been tested PPGLs, with accurate mutation detection, higher speed, reduced costs compared current assays. Flexibility expand gene set immediate adjustable NGS, but both methods limitations. Summary The degree heterogeneity heritability PPGLs make ideal medium screening. detection large genomic defects underrepresented areas needed before can fully realize its potential as premier option routine testing these