Prevalence of Endocrine Manifestations and GIST in 108 Systematically Screened Patients With Neurofibromatosis Type 1.

Hippolyte DupuisBenjamin ChevalierCatherine Cardot-BautersArnaud JanninChristine Do CaoMiriam LadsousChristine CortetEmilie MerlenMagali DrouardSébastien AubertDominique VidaudStéphanie EspiardMarie-Christine Vantyghem

Published in: Journal of the Endocrine Society (2023)

The pheochromocytoma prevalence in this NF1 cohort was higher (>20%) than previously described, confirming the interest of systematic screening, especially in young women. The prevalence of GEP-NETs and GISTs was about 3%, respectively. No phenotype-genotype correlation was observed.

Keyphrases

risk factors
signaling pathway
oxidative stress
immune response
lps induced
nuclear factor
pi k akt