Management of neurofibromatosis type 1-associated plexiform neurofibromas

Fisher, Michael J.; Blakeley, Jaishri O.; Weiss, Brian; Dombi, Eva; Ahlawat, Shivani; Akshintala, Srivandana; Belzberg, Allan J.; Bornhorst, Miriam; Bredella, Miriam A.; Cai, Wenli; Ferner, Robin E; Gross, Andrea M.; Harris, Gordon J.; Listernick, Robert; Ly, Ina; Martin, Staci; Mautner, Victor‐F.; Salamon, Johannes; Salerno, Kilian E.; Spinner, Robert J.; Staedtke, Verena; Ullrich, Nicole J.; Upadhyaya, Meena; Wolters, Pamela L.; Yohay, Kaleb; Widemann, Brigitte C.

doi:10.1093/neuonc/noac146

Cited by 66 publications

(48 citation statements)

References 108 publications

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“…The phase 1 and 2 clinical trials with the MEKi selumetinib for children with inoperable symptomatic PNs resulted in a partial response in 71% and 74% of patients, respectively. 1 It was also seen that the patients also experienced less pain and improved function and quality of life while on treatment which was significant. Thus, selumetinib became the first medical drug of choice to be approved by the FDA for the management of PNs in children.…”

Section: Medical Management With Mitogen-activated Protein Kinase Inh...mentioning

confidence: 84%

“…However, in the past two decades, the Mitogen-activated protein kinase (MEK) inhibitor selumetinib is showing promising treatment of PNs. 1 The incidence of Neurofibromatosis'(NF 1) type 1 (von Recklinghausen NF) occurs in 1 of 4000 births and is inherited in an autosomal dominant pattern with variable penetrance. Spontaneous mutation occurs in 50% of cases.…”

Section: Introductionmentioning

confidence: 99%

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Plexiform neurofibromatosis of face – Recent advances in the management

Bhattacharya¹,

Bhattacharya²,

Bhattacharya³

2023

IJASHNB

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Plexiform neurofibromas (PNs) are benign tumors that grow in the nerves of people with neurofibromatosis type 1 (NF1), a genetic disorder that affects the development and growth of nerve cell tumors. PNs can occur anywhere in the body but are most commonly found in the skin, nerves, and bones. They can cause disfigurement and functional impairment, and may also increase the risk of malignant transformation. Treatment options include surgery, radiation therapy, and medications to manage symptoms.

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Section: Medical Management With Mitogen-activated Protein Kinase Inh...mentioning

confidence: 84%

Section: Introductionmentioning

confidence: 99%

Plexiform neurofibromatosis of face – Recent advances in the management

Bhattacharya¹,

Bhattacharya²,

Bhattacharya³

2023

IJASHNB

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“…Several other MEK inhibitors (i.e., trametinib) have also shown efficacy or are in testing in phase II trials for both pediatric and adult patients with NF1 38 . These targeted agents have been shown to reduce tumor size, slow neoplastic growth, and may prevent worsening of spinal cord compression 39–41 . One expert reported that within their institution, there is currently movement toward recommending MEK inhibitors before performing surgery, when possible, for spinal neurofibromas.…”

Section: Discussionmentioning

confidence: 99%

“…38 These targeted agents have been shown to reduce tumor size, slow neoplastic growth, and may prevent worsening of spinal cord compression. [39][40][41] One expert reported that within their institution, there is currently movement toward recommending MEK inhibitors before performing surgery, when possible, for spinal neurofibromas. Thus, patients who meet the identified indications for resection should first be evaluated for candidacy in receiving MEK inhibitors if the presentation is not emergent.…”

Section: Discussionmentioning

confidence: 99%

Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy

Suresh

Gómez

et al. 2023

Journal of Pediatric Orthopaedics

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Background: Spinal conditions, such as scoliosis and spinal tumors, are prevalent in neurofibromatosis type 1 (NF1). Despite the recognized importance of their early detection and treatment, there remain knowledge gaps in how to approach these manifestations. The purpose of this study was to utilize the experience of a multidisciplinary committee of experts to establish consensus-based best practice guidelines (BPGs) for spinal screening and surveillance, surgical intervention, and medical therapy in pediatric patients with NF1. Methods: Using the results of a prior systematic review, 10 key questions that required further assessment were first identified. A committee of 20 experts across medical specialties was then chosen based on their clinical experience with spinal deformity and tumors in NF1. These were 9 orthopaedic surgeons, 4 neuro-oncologists/oncologists, 3 neurosurgeons, 2 neurologists, 1 pulmonologist, and 1 clinical geneticist. An initial online survey on current practices and opinions was conducted, followed by 2 additional surveys via a formal consensus-based modified Delphi method. The final survey involved voting on agreement or disagreement with 35 recommendations. Items reaching consensus (≥70% agreement or disagreement) were included in the final BPGs. Results: Consensus was reached for 30 total recommendations on the management of spinal deformity and tumors in NF1. These were 11 recommendations on screening and surveillance, 16 on surgical intervention, and 3 on medical therapy. Five recommendations did not achieve consensus and were excluded from the BPGs. Conclusion: We present a set of consensus-based BPGs comprised of 30 recommendations for spinal screening and surveillance, surgical intervention, and medical therapy in pediatric NF1.

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“…Syndromic PNST affect young adults and children and are generally present in multiple localizations, including several subcutaneous lesions; although it is a rare subgroup, malignant PNST are more frequent in syndromic diseases than sporadic conditions. Neurofibromas are mainly related to neurofibromatosis type 1 (NF1), and they present the risk of malignant transformation into aggressive and infiltrative sarcomas ( 7 , 8 ), with severe morbidity and also mortality ( 9 ). The role of adjuvant radiotherapy and traditional chemotherapy remains unclear for such tumors.…”

Section: Introductionmentioning

confidence: 99%

Assessing the role of sodium fluorescein in peripheral nerve sheath tumors and mimicking lesions surgery: An update after 142 cases

et al. 2023

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ObjectivePeripheral nerve sheath tumors (PNST) include mainly schwannomas and neurofibromas. Surgical resection represents the mainstay of treatment but due to their pathogenesis, distinguishing between intact functional nerve and the fibers from whence the PNST arose may not always be easy to perform, constituting the most relevant risk factor in determining a worsening in neurological condition. The introduction of intraoperative tools to better visualize these tumors could help achieve a gross-total resection. In this study, we analyzed the effect of sodium fluorescein (SF) on the visualization and resection of a large cohort of PNST.MethodsBetween September 2018 and December 2021, 142 consecutive patients harboring a suspected PNST underwent fluorescein-guided surgery at the Department of Neurosurgery of the Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. All patients presented with a different degree of contrast enhancement at preoperative MRI. SF was intravenously injected after intubation at 1 mg/kg. Intraoperative fluorescein characteristics and postoperative neurological and radiological outcomes were collected, analyzed, and retrospectively compared with a historical series.Results142 patients were included (42 syndromic and 100 sporadic); schwannoma was the predominant histology, followed by neurofibroma (17 neurofibroma e 12 plexiform neurofibroma) and MPNST. Bright fluorescence was present in all cases of schwannomas and neurofibromas, although with a less homogeneous pattern, whereas it was significantly less evident for malignant PNST; perineurioma and hybrid nerve sheath tumors were characterized by a faint fluorescence enhancement. The surgical resection rate in the general population and even among the subgroups was about 66.7%; from the comparative analysis, we found a consistently higher rate of complete tumor removal in plexiform neurofibromas, 66% in the “fluorescent” group vs 44% in the “historical” group (p-value < 0.05). The rate of complications and mean surgical time were superimposable among the two populations.ConclusionsSF is a valuable method for safe fluorescence-guided PNST and mimicking lesions resection. Our data showed a positive effect of fluorescein-guided surgery in increasing the rate of surgical resection of plexiform neurofibromas, suggesting a possible role in improving the functional and oncological outcome of these lesions.

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Management of neurofibromatosis type 1-associated plexiform neurofibromas

Cited by 66 publications

References 108 publications

Plexiform neurofibromatosis of face – Recent advances in the management

Plexiform neurofibromatosis of face – Recent advances in the management

Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy

Assessing the role of sodium fluorescein in peripheral nerve sheath tumors and mimicking lesions surgery: An update after 142 cases

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