Spinal neurofibromatosis and phenotypic heterogeneity in NF1

Korf, Bruce R.

doi:10.1111/cge.12532

Cited by 5 publications

(4 citation statements)

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“…Only EUR‐R32, carrying a different pathogenic variant, p.Arg1276Pro, presented with greater than 100 cutaneous and subcutaneous lesions at age of 60 years (Table S14). Among 22 individuals with spinal tumors, 16 cases had normal development in line with previous findings (Korf, ).…”

Section: Discussionsupporting

confidence: 89%

“…Familial spinal neurofibromatosis (FSNF; MIM# 162210) is another rare subtype of NF1, characterized by the presence of multiple histopathologically confirmed neurofibromas along spinal nerve roots with few, if any, cutaneous neurofibromas, but often multiple firm subcutaneous tumors and CALMs (Korf, ; Pulst, Riccardi, Fain, & Korenberg, ; Ruggieri et al, ). Although pathogenic NF1 missense and splicing variants are more commonly found in these individuals (Kluwe, Tatagiba, Fünsterer, & Mautner, ; Messiaen, Riccardi, & Peltonen, ; Upadhyaya et al, ), no specific recurrent variants associated with symptomatic spinal neurofibromas were identified, except recently for pathogenic missense variants affecting p.Gly848 (Koczkowska et al, ).…”

Section: Discussionmentioning

confidence: 99%

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

et al. 2019

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

et al. 2019

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“…The disease phenotype is characterized by multiple skin pigmentations (café-au-lait macules and lentiginous macules), melanocytic hamartomas of the iris (Lisch nodules), cutaneous (dermal), subcutaneous (peripheral nodular), internal, and/or plexiform neurofibromas, optic gliomas, intellectual disability, skeletal dysplasia, and short stature. Dermal and peripheral nerve neurofibromas comprise the majority of benign tumors in classical NF1 (15)(16)(17). While the occurrence of spinal neurofibromas is more restricted in classical disease (36% of the patients, 5% with spinal cord complication), these tumors are more likely to be seen in rare clinical variants of NF1 involving multiple spinal roots (multiple neurofibromas in spinal roots, MNFSR) and bilateral involvement of all spinal nerves (Spinal neurofibromatosis, SNF) (18).…”

Section: Introductionmentioning

confidence: 99%

Case report: Bilateral spinal neurofibromatosis

Bagheri¹,

Aghajanian²,

Doulabi³

et al. 2022

Front. Neurol.

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Spinal neurofibromatosis (SNF) is a rare form of Neurofibromatosis in which neurofibromas exist bilaterally throughout all spinal roots. Despite previous attempts made to characterize and classify the disease as a separate clinical form of the disease, the low incidence rate of the disease and scarcity of previous reports calls for further studies and reports to elaborate this clinical entity. The patient in this report was a 36-year-old man presenting with lower limb weakness, unsteady gait, and paresthesia. The patient also presented with multiple cutaneous café-au-lait spots, cutaneous neurofibromas, and a large neurocutaneous neurofibroma of right facial nerve. Magnetic resonance imaging (MRI) of spine revealed bilateral spinal neurofibromas across all spinal cord roots. MRI study of head revealed no abnormalities in the brain and optic tract. The patient fulfilled both NIH criteria as well as revised criteria for NF1. Despite total spinal cord involvement, surgical intervention was withheld from the patient due to high propensity of recurrence as seen with previous attempts in removing peripheral neurofibromas, slow progression of symptoms, and lack of significant pain and impairment. SNF is often described as a form of disease with infrequent presentation of classical NF1 symptoms other than spinal tumors. The case presented here however, presented with several cutaneous neurofibromas and café-au-lait spots. Considering the positive outcome of surgical intervention in a few other reports, the decision to surgically intervene should be left to the clinical judgement of the participating surgeon, patient preference and socioeconomic background in a case-by-case manner.

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“…Timing of operation is another challenge to overcome. Uncertain genotype-phenotype relationship and lack of typical clinical symptoms make it difficult for SNF patients to be diagnosed, asymptomatic children are more likely to miss the early diagnosis (Korf, 2015). Nerve compression, the most obvious symptoms in SNF, that greatly affect the patients' quality of life is introduced as one of the surgical indications for SNF (Ferner & Gutmann, 2013).…”

Section: Introductionmentioning

confidence: 99%

Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review

Ning

Yang

Chen

et al. 2019

Molec Gen & Gen Med

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Background: Spinal neurofibromatosis (SNF) is a related form of Neurofibromatosis type 1 (NF1) with a low incidence. Here, we report a SNF patient with NF1 (OMIM *613113) mutation in a classic NF1 family to enrich the case data. Methods: We presented the clinical data of a 27-year-old female suffered from SNF.Two NF1 individuals (the mother and the brother) in the patient's family were also described. In the SNF patient, tumors in cervical were removed by surgical operation after the spinal MRI evaluation. Hematoxylin-eosin staining and immunohistochemistry were performed to better characterize the excised tumors. NF1 exons of the patient and her NF1 families were further sequenced by the next-generation sequencing technology. Results: The patient developed irregular café-au-lait macules, multi-subcutaneous nodules, recurrent numbness, and weakness of both lower extremities. Multiple neurofibromas were found in the whole spine by spinal MRI. Tumor-like cells and hyperplasia of ganglion cells were found in the excised tissue by H&E staining and immunohistochemistry, respectively. One-year follow-up on the SNF patient showed that after the surgery lower limb pain, numbness and convulsion were completely relieved. A common germ-line pathogenic mutation (NM_000267.3:c.1721 + 3A>G) was found in both the SNF patient and her classic NF1 families. Conclusion: A case of SNF with classic NF1 mutation in a classic NF1 family was identified for the first time, indicating that SNF may share the same gene mutation with NF1, while the different manifestation of NF1 and SNF may be related to gene modification. K E Y W O R D Sclassic neurofibromatosis type 1, NF1 gene mutation, spinal neurofibromatosis 2 of 7 | NING et al.

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Spinal neurofibromatosis and phenotypic heterogeneity in NF1

Cited by 5 publications

References 5 publications

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Case report: Bilateral spinal neurofibromatosis

Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review

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