Genetics of Pheochromocytoma and Paraganglioma

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Bernardo Dias Pereira
Henrique Vara Luiz
Ana Gonçalves Ferreira
Jorge Portugal


Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that often develop on a background of predisposing genetic mutations. With the continuous expansion of genetic landscape of PPGL, new tools of genetic screening have been developed for simultaneous parallel sequencing of multiple genes, at faster rates and lower costs. Yet, next-generation sequencing techniques are not available worldwide and demand expertise to circumvent technical limitations and interpret results of uncertain significance, and thus a sequential genetic analysis driven by the clinical phenotype remains advisable for a successful diagnosis, and to save costs. In this chapter, we focus on the clinical features of patients with PPGLs as a framework for an optimized sequential genetic screening. We also describe new syndromes and genes that are expanding the genetic etiology of PPGLs.


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Chapter 1