Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

Nicita, Francesco; Torrente, Isabella; Spalice, Alberto; Bottillo, Irene; Papetti, Laura; Pinna, Valentina; Ursitti, Fabiana; Ruggieri, Martino

doi:10.1016/j.jocn.2013.01.026

Cited by 5 publications

(14 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Associated involvement of all the major peripheral nerve branches in the four limbs could not always be present (Table S1): for this reason we preferred to leave such phenotypic aspect in brackets, in the definition of SNF, and to add the word ‘eventually’. As stated before, however, we could record subcutaneous neurofibromas (relentlessly involving all the major peripheral nerve branches) in all the nine cases followed‐up at our institutions (Tables and S4) .…”

Section: Phenotypic Spectrum and Natural Historymentioning

confidence: 72%

“…Coronal ( a ) and sagittal ( b , c ) T2‐weighted magnetic resonance images of the spine in an affected individual with spinal neurofibromatosis reveal multiple, bilateral neurofibromas of the spinal roots that leave no intact segment [patient III‐1 in Nicita et al ].…”

Section: Results Of Reviewmentioning

confidence: 99%

“…Three out of the original 98 patients, labelled as having SNF , were excluded from present analysis as they had involvement of only one spinal root (patients 406, 894 and 548) .…”

Section: Results Of Reviewmentioning

confidence: 99%

“…After these two reports (1,2), 17 further studies recorded 83 additional (both familiar sporadic) patients for a total of 98 patients labelled under the umbrella term of 'familial/hereditary spinal neurofibromatosis' or just 'spinal neurofibromatosis' (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). The condition has been regarded as a true NF1 variant or subtype, and either linkage to the NF1 locus (1,2) or mutations in the NF1 gene have been recorded in most reported cases (3, 5-11, 13, 16-20).…”

mentioning

confidence: 99%

“…typical pigmentary manifestations, Lisch nodules and cutaneous and nodular neurofibromas) and other NF1-associated manifestations (e.g. scoliosis, long bone dysplasia, optic and non-optic pathway gliomas, plexiform neurofibromas (PNFs), pheochromocytoma and the typical T2 hyperintensities in the brain) (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Besides the classical families with multiple spinal neurofibromas, several sporadic cases have been recorded and, more recently, the phenotypic spectrum has included a set of concordant twins with SNF (16) and individuals with SNF belonging to families with classical NF1 (20).…”

mentioning

confidence: 99%

See 4 more Smart Citations

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

et al. 2014

View full text Add to dashboard Cite

Spinal neurofibromatosis (SNF) is a related form of neurofibromatosis 1 (NF1), characterized by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all the major peripheral nerve branches) with or without other manifestations of classical NF1. By rigorous application of these criteria to the 98 SNF cases published, we developed: (i) a cohort of 49 SNF patients (21 males and 28 females; aged 4-74 years]: 9 SNF families (21/49), 1 mixed SNF/NF1 family (1/49) and 27 of 49 sporadic SNF patients (including 5 unpublished patients in this report); and (ii) a group of 49 non-SNF patients including: (a) 32 patients with neurofibromas of multiple but not all spinal roots (MNFSR): 4 mixed SNF/MNFSR families (6/32); (b) 14 patients with NF1 manifestations without spinal neurofibromas, belonging to SNF (8/49) or MNFSR families (6/32); (c) 3 patients with neurofibromas in one spinal root. In addition to reduced incidence of café-au-lait spots (67% in SNF vs 56% in MNFSR), other NF1 manifestations were less frequent in either cohort. Molecular testing showed common NF1 gene abnormalities in both groups. The risk of developing SNF vs NF1 was increased for missense mutations [p = 0.0001; odds ratio (OR) = 6.16; confidence interval (CI) = 3.14-13.11], which were more frequent in SNF vs MNFSR (p = 0.0271).

show abstract

Section: Phenotypic Spectrum and Natural Historymentioning

confidence: 72%

Section: Results Of Reviewmentioning

confidence: 99%

“…Three out of the original 98 patients, labelled as having SNF , were excluded from present analysis as they had involvement of only one spinal root (patients 406, 894 and 548) .…”

Section: Results Of Reviewmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

et al. 2014

View full text Add to dashboard Cite

show abstract

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

View full text Add to dashboard Cite

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.

show abstract

Neurofibromatosis Type 1

Gorelyshev¹,

Serova²,

Mazerkina³

et al. 2017

Textbook of Pediatric Neurosurgery

View full text Add to dashboard Cite

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

Cited by 5 publications

References 17 publications

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

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

Neurofibromatosis Type 1

Contact Info

Product

Resources

About