Ganglioglioma of the Spinal Cord in Neurofibromatosis Type 1

Giussani, Carlo; Isimbaldi, Giuseppe; Massimino, Maura; Trezza, Andrea; Cianci, Paola; Canonico, Francesco; Sganzerla, Erik P.

doi:10.1159/000355249

Cited by 6 publications

(5 citation statements)

References 17 publications

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“…In NF1, intramedullary lesions are more frequently low-grade astrocytomas (15% of patients) [ 13 ]. Rare cases of ependymomas (4 cases) [ 14 ] and gangliogliomas [ 15 , 16 ] have also been reported in NF1 patients. These lesions are almost always symptomatic, single, have an inhomogeneous signal, often enhance in post-contrast T1WI and usually show progression in follow-up exams.…”

Section: Discussionmentioning

confidence: 99%

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

et al. 2018

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BackgroundIn Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible location of such lesions, the spinal cord, which we have defined as medullary Unidentified Bright Objects. These have been, to our knowledge, scarcely described in previous works.Case presentationWe report the cases of 7 patients with medullary Unidentified Bright Objects in Neurofibromatosis type 1 that we have followed for up to 9 years in our Regional Referral Center for Neurofibromatosis. In all of our patients, these lesions were completely asymptomatic and reported on Magnetic Resonance exams the patients underwent for other clinical indications.ConclusionsThe aim of our work is to increase awareness of the possibility of medullary Unidentified Bright Objects in Neurofibromatosis type 1 patients, which can simulate neoplastic lesions, suggesting a more conservative approach in these cases.

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Section: Discussionmentioning

confidence: 99%

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

et al. 2018

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“…3,6,7 Gangliogliomas associated with NF1 are uncommon in the brain or spinal cord and 2 cases have been reported in the conus medullaris. [8][9][10][11] This report describes a girl with NF1, confirmed by germline mutational analysis, who developed 4 intramedullary spinal neoplasms, 1 of which was a ganglioglioma demonstrating an inactivating mutation in the second NF1 allele.…”

mentioning

confidence: 78%

“…Gangliogliomas associated with NF1 are uncommon in the brain or spinal cord and 2 cases have been reported in the conus medullaris 8–11…”

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confidence: 99%

Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review

Morales

Viskochil²,

Hofmann

et al. 2021

Journal of Pediatric Hematology/Oncology

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Neurofibromatosis type 1 (NF1)-associated primary intramedullary spinal cord ganglioglioma has only rarely been reported. Because of frequent nonresectability, they pose significant management challenges despite clinical indolence. This report describes a 4-year-old girl with NF1 who was found to have multiple discrete, infiltrative intramedullary cord masses, and biopsy demonstrated World Health Organization grade I ganglioglioma. Panel-based next-generation sequencing showed her previously identified germline NF1 mutation and a second somatic NF1 mutation. This represents the first report of multiple primary intramedullary gangliogliomas in a child with NF1 and demonstrates how biopsy with panel-based next-generation sequencing provides potential targets for MAPK/MEK/BRAF pathway inhibitor therapy.

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“…Of articles reporting on type and presentation of spinal and thoracic tumors in pediatric patients with NF1, five articles reported on NF1-associated gangliomas, which were found most frequently in the cervical and thoracic spine and were associated with nerve compression symptoms on presentation (Table 2) [33][34][35][36][37]. Outcomes of nonoperative treatment (chemotherapy, radiotherapy, or neuromotor rehabilitation) and surgical resection were reported to be excellent, typically with nearly complete resolution or improvement of neurologic symptoms.…”

Section: Spinal and Thoracic Tumorsmentioning

confidence: 99%

Spinal screening, malignancy, medical therapy, and surgical correction of deformity in pediatric patients with neurofibromatosis type 1: a systematic review

Suresh¹,

Xu²,

Groves

et al. 2022

Journal of Pediatric Orthopaedics B

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The objective of this systematic review was to synthesize evidence regarding spinal screening recommendations, types of spinal and thoracic neurofibromatosis type 1 (NF1) tumors, medical therapy for NF1-associated neoplasms, and treatment with magnetically controlled growing rods (MCGRs) or cervical kyphosis correction in pediatric patients with NF1. We queried PubMed, Embase, Cochrane Library, Web of Science, Scopus, Clinicaltrials.gov, and medRxiv for studies reporting spinal screening recommendations, prognosis, and medical therapy for NF1-associated spinal tumors and MCGR use or cervical kyphosis correction in pediatric NF1 patients, yielding 758 publications, 33 of which were included. There is no consensus on spinal screening interval. Computed tomography is recommended for postoperative monitoring. Patients with gangliomas and spinal neurofibromas had nearly complete symptom resolution after resection. Plexiform neurofibromas were most commonly treated with resection and laminectomy; some patients reported tumor enlargement after intervention. Malignant nerve sheath tumors have high rates of metastasis even after chemoradiation and resection. MEK-inhibitors produced limited regression in tumor size. Sirolimus and thalidomide reduced tumor size but caused more severe adverse effects than MEK-inhibitors. Improvements in major curves and T1–T12 height gain were reported after MCGR intervention. Anteroposterior arthrodesis produced the greatest correction of dystrophic cervical kyphosis. There may be value in establishing standardized spinal screening protocols for pediatric NF1 patients. Surgical correction of NF1-associated spinal deformity is effective, though current medical therapies for spinal tumors have limited success. Areas for further investigation include determining appropriate screening intervals, choice of medical therapy for spinal tumors, and long-term outcomes of MCGRs. Level of Evidence: IV.

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Ganglioglioma of the Spinal Cord in Neurofibromatosis Type 1

Cited by 6 publications

References 17 publications

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review

Spinal screening, malignancy, medical therapy, and surgical correction of deformity in pediatric patients with neurofibromatosis type 1: a systematic review

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