Ⅰ型神经纤维瘤病相关神经纤维瘤的临床特点与手术治疗

Clinical features and surgical treatments of neurofibromas associated with neuro-fibromatosis type 1

目的探讨Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)相关神经纤维瘤的临床特点和手术治疗方法、疗效。方法回顾分析2018年12月—2024年4月收治的41例NF1患者临床资料。男15例,女26例;年龄5~61岁,平均27.5岁。3例患者存在1种类型神经纤维瘤,其余患者存在2种及以上类型神经纤维瘤。14例多发皮肤型神经纤维瘤(cutaneous neurofibroma,CNF)行全切除。18例弥漫型神经纤维瘤行全切除、近全切除或次全切除。13例局限结节型神经纤维瘤中,9例良性肿瘤行包膜下全切除;4例恶性周围神经鞘瘤(malignant peripheral nerve sheath tumor,MPNST)行肿瘤大体全切除,其中1例术后接受放、化疗。15例丛状神经纤维瘤(plexiform neurofibroma,PNF)中,5例同时切除浅部和深部PNF,2例仅切除浅部PNF,8例仅切除深部PNF中较大结节病变;其中8例为MPNST,7例在神经电生理监测下行肿瘤包膜下全切除和包膜大部切除,另1例位于头顶部作肿瘤广泛切除后植皮;术后1例接受质子刀治疗,2例未行放疗,其余患者接受普通放疗。结果术后患者均获随访,随访时间3~66个月,平均25.0个月。CNF患者术后恢复满意,随访期间无复发。弥漫型神经纤维瘤患者术前症状均缓解,其中3例位于头面部患者复发。局限结节型神经纤维瘤患者中,良性患者术后恢复良好,仅1例出现短暂局部神经痛;MPNST患者中,2例术后复发并发生肺部转移死亡,其余2例随访期间未见复发及转移。PNF患者中,良性患者术前局部压痛症状全部消失,随访期间未见复发;2例位于臂丛患者出现肩外展困难,1例累及迷走神经患者出现声音嘶哑。8例MPNST患者中因肺部转移死亡1例、全身衰竭死亡1例,其余6例随访期间病情稳定,未见肿瘤复发、转移。结论针对不同类型神经纤维瘤临床特点选择恰当手术方案,可获得较好疗效。弥漫型神经纤维瘤尤其位于头面部者,全切除困难,术后容易复发。MPNST患者预后最差,易复发和转移,生存期短,选择全切除手术联合放疗可以减少局部复发。

Objective To explore the clinical features,surgical treatment,and effectiveness of neurofibromas associated with neurofibromatosis type 1(NF1).Methods A clinical data of 41 patients with NF1 admitted between December 2018 and April 2024 was retrospectively analyzed.There were 15 males and 26 females,with an average age of 27.5 years(range,5-61 years).Only one type of neurofibroma existed in 3 patients and the rest of the patients had more than two types of neurofibromas.Fourteen patients had total resection of multiple cutaneous neurofibromas(CNF).Eighteen patients of diffuse neurofibromas underwent total,near-total,or subtotal resection.Among the 13 patients of localized nodular neurofibromas,9 of benign tumors underwent total sub-capsular resection and 4 of malignant peripheral nerve sheath tumor(MPNST)underwent maginal resection,and only 1 underwent postoperative radiotherapy and chemotherapy.Among the 15 patients of plexiform neurofibromas(PNF),5 patients underwent both superficial and deep PNF resection,2 underwent the superficial PNF resection,and 8 underwent the large nodular lesions in the deep PNF resection.There were 8 MPNST,of which 7 cases underwent total sub-capsular resection and large tumor capsule resection under neurophysiological monitoring,and 1 case with the tumor located on the top of the head underwent wide resection and skin grafting.One patient underwent proton knife therapy after surgery,2 patients did not receive radiotherapy,and the remaining patients received conventional radiotherapy.Results All patients were followed up after surgery,and the follow-up time was 3-66 months,with an average of 25.0 months.Patients with CNF recovered satisfactorily after surgery,and there was no recurrence during follow-up.Patients with diffuse neurofibromas relieved preoperative symptoms after surgery.Three patients with diffuse neurofibromas located in the head and face recurred during follow-up.The patients with benign localized nodular neurofibromas recovered well after surgery,and only 1 patient had transient regional neuralgia after surgery.Among the patients with MPNST,2 patients died of recurrence and lung metastasis,while the remaining 2 patients had no recurrence and metastasis during follow-up.All preoperative symptoms disappeared in patients with benign PNF,and no tumor recurrence was observed during follow-up.Two patients with PNF located in the brachial plexus had difficulty in shoulder abduction after surgery,1 patient with PNF located in vagus developed hoarseness after surgery.Among the 8 patients with MPNST in PNF,1 died of lung metastases and 1 died of systemic failure.The remaining 6 patients were in stable condition during follow-up,and no tumor recurrence or metastasis was observed.Conclusion According to the clinical features of neurofibromas in patients with NF1,choosing appropriate surgical approaches can obtain good effectiveness.Because of the difficulty of completely resection,diffuse neurofibromas,especially those located in the head and face,are prone to recurrence after surgery.MPNST has the worst prognosis,high incidence of recurrence/metastasis,and short survival period.Total resection combined with radiotherapy can decrease local recurrence.