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

Hippolyte Dupuis,Benjamin Chevalier,Catherine Cardot-Bauters,Arnaud Jannin,Christine Do Cao,Miriam Ladsous,Christine Cortet,Emilie Merlen,Magali Drouard,Sébastien Aubert,Dominique Vidaud,Stéphanie Espiard,Marie-Christine Vantyghem

Journal of the Endocrine Society（2023）

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摘要

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.

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关键词

neurofibromatosis type,endocrine manifestations

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