Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1

Abstract

Background:Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low-and middle-income countries. Methods:We performed a retrospective analysis of 491 patients with NF1 followed at two reference centers in Brazil.Results: Approximately 38% of patients had PNs, resulting in reduced life quality. The median patient age with PNs was 30 years (range: 6 to 83 years). Head and neck, and extremity were the main affected locations with 35.8 and 30.6%, respectively. PNs were classified as asymptomatic in 25.1% of patients, while 52.5% presented symptomatic and inoperable tumors. The most common manifestations related to PNs were disfigurement and orthopedic involvement. Twenty patients developed neoplasms and ten (50%) presented with malignant peripheral nerve sheath tumors (MPNST). The prevalence of MPNST in our study was 2.9%. Conclusions:Patients with NF1 experience clinically significant morbidity, especially when it is associated with PN. Though there are many patients affected by NF1 in Brazil and other low-and middle-income countries, there is little data available in the corresponding literature. Our results are comparable to the previous results reported from higher-income countries and international registries.

Real-world Settings for the Surgical Treatment of Neurofibroma in Patients with Neurofibromatosis Type 1

“…Surgery for diffuse plexiform neurofibroma commonly requires hospitalization due to its associated high risks, whereas cutaneous neurofibroma may be treated at an outpatient clinic, which appears to have been a factor contributing to the increased rate of surgery for cutaneous neurofibroma even with restricted medical access. A retrospective epidemiological analysis of patients with NF1 with a median age of 30 years showed that plexiform and cutaneous neurofibromas were present in 38.2% (176/460) and 68.9% (331/480) of patients, respectively (12) . Therefore, plexiform neurofibroma is not negligible epidemiologically.…”

A Systematic Review of Diagnostic Modalities and Strategies for the Assessment of Complications in Adult Patients with Neurofibromatosis Type 1

“…It should be recognised that Brazil had just 118 PET/CT scanners and 3174 MRI machines for a population of more than 203 million as of 2022, making the postulated best medical practice highly infeasible for many adult NF1 patients [ 77 ]. There is a globally inequitable distribution of medical imaging, and high-cost modalities for NF1 surveillance such as MRI and FDG PET/CT have many barriers to access in low- and middle-income economies [ 78 ], making their widespread employment in adult NF1 surveillance implausible. Such barriers may include a lack of investment plans or prioritisation, high costs associated with equipment procurement, maintenance, and safety, and the requirement of properly trained technicians for operation of imaging equipment [ 79 ].…”

Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry

“…Among their subtypes are cutaneous and subcutaneous neurofibromas (benign tumors), and plexiform neurofibromas, which despite being a significant cause of complications, are often inoperable due to their invasiveness, with the potential to transform into malignant peripheral nerve sheath tumors. 7 , 12 Malignant tumors, including those of the optic pathways and brainstem gliomas, are present in 15–20 % of NF1-affected patients. 3 …”