头颈部1型神经纤维瘤病相关丛状神经纤维瘤的治疗进展与挑战OA

Neurofibromatosis type 1(NF1)is an autosomal dominant genetic disorder caused by mutations in the NF1 gene located at 17q11.2.Plexiform neurofibromas(PN)are one of the common clinical manifestations of NF1,known as NF1-related plexiform neurofibromas(NF1-PN).Head and neck NF1-PN account for 42.9%of all cases.Tu-mors grow rapidly during childhood and adolescence,and they can exhibit widespread growth,causing severe head,face,and neck deformities,organ dysfunction,and even loss of function.NF1-PN have the potential to transform into malignant peripheral nerve sheath tumors(MPNSTs),known as NF1-associated MPNST(NF1-MPNST).Histopathology is the gold standard for diagnosing NF1-PN,magnetic resonance imaging(MRI)is the preferred imaging examination for NF1-PN,and PET/CT examination is a reliable method for early detection and diagnosis of NF1-MPNST.Genetic test-ing plays an important role in early diagnosis of tumors,monitoring tumor progression,genetic counseling,and molecu-lar level treatment and management of the disease.This article proposes the goals and principles for treating NF1-PN in the head and neck region.The main treatment methods currently used are surgery and medication.Surgical treatment includes surgical resection,and tissue flap repair or allogeneic transplantation of composite tissue after surgical resec-tion.The mitogen-activated protein kinase inhibitors(MEK)inhibitor Selumetinib is an effective medication used to treat NF1-PN patients aged 3 years and older with symptoms and who are unable to undergo surgery.A Phase Ⅱb trial of mirdametinib,a small-molecule inhibitor,has been completed in adults and children,and it is considered well toler-ated in both groups.CRISPR/Cas9 technology is expected to become an effective means of NF1-PN gene therapy.The treatment method of NF1-MPNST is similar to that of soft tissue sarcoma.However,the safety of complete resection of extra-large tumors,protection of important tissues and organs during surgery,effective control of intraoperative bleed-ing,reconstruction of soft and hard tissue defects in the head and neck;prospective,multicenter,randomized,double-blind,controlled clinical trials of MEK inhibitors,as well as the use of CRISPR/Cas9 technique for gene therapy NF1-PN,are all current challenges.This article summarizes recent advances and ongoing challenges in the treatment of head and neck NF1-PN,aiming to provide a reference for clinicians and researchers.