A Retrospective Study of Diffuse Plexiform Neurofibroma With Surgical Intervention in Neurofibromatosis 1

Abstract

Diffuse plexiform neurofibroma (DPN) is a subtype of plexiform neurofibroma that primarily develops on a large pigmented macule. These tumors often exhibit substantial growth and carry a risk of malignant transformation. Consequently, DPN can significantly impact the quality of life and prognosis in patients with neurofibromatosis 1, underscoring the critical need for effective therapeutic options. MEK inhibitors, such as Mirdametinib and Selumetinib, have recently become available for symptomatic, unresectable pediatric PN. However, surgical resection remains the only viable treatment for adult patients in Japan. Nevertheless, a consensus on the optimal timing and necessity of surgical intervention has not been established. This multicenter retrospective study analyzed 95 cases of DPN, including 46 who underwent surgical treatment. The most common age at the time of surgery was in the third decade of life, and 71.7% of them were female. Tumors were most commonly located in the trunk (42.1%), and 40% of them were less than 10 cm in size and associated with pain. Complete excision was achieved in 24.1% of the resected tumors. In terms of postoperative adverse events, significant hemorrhage was observed in 4 cases (8.6%), and 2 cases (4.3%) resulted in neurological deficits. These findings suggest that surgical intervention is undertaken for smaller, painful tumors located in anatomically accessible regions. As DPN grows in size, surgical resection becomes challenging, highlighting the importance of considering early intervention while curative resection remains feasible.