French cohort of children and adolescents with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas: CASSIOPEA study

Pierre Wolkenstein,Yves Chaix, Natacha Entz Werle,Mona Amini-Adle,Sébastien Barbarot, Christine Boileau, Anissa Miled, Talha Rashid,Isabelle Aerts

European Journal of Medical Genetics（2023）

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摘要

Surgery is a treatment option for neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN), but complete resection is often not feasible. Real-world studies are warranted to understand disease burden, progression, and need for medical treatment in patients with inoperable PN.

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关键词

Autosomal dominant genetic disorder,Inoperable tumor,Mitogen-activated protein kinase kinase inhibitor,Neurofibromatosis type 1,Plexiform neurofibroma,Selumetinib

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