Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.

Janaina PetenuciAugusto G GuimaraesGustavo F C FagundesAnna Flavia F BenedettiAna Caroline F AfonsoMaria Adelaide A PereiraMaria Claudia N ZerbiniSheila SiqueiraFernando YamauchiSilvia C SoaresVictor SrougiFabio Y TannoJose L ChamboRoberto I LopesFrancisco T DenesAna O HoffAna Claudia LatronicoBerenice B MendoncaMaria Candida B V FragosoMadson Queiroz Almeida

Published in: Clinical endocrinology (2021)

Most of the paediatric PPGL were hereditary and multifocal. The majority of the affected genes belong to pseudohypoxic cluster 1, with VHL being the most frequently mutated. Therefore, our findings impact surgical management and surveillance of children with PPGL.

Keyphrases

intensive care unit
genome wide
emergency department
public health
young adults
copy number
dna methylation
genome wide identification
wild type