Literature DB >> 32564155

Spinal manifestations of Neurofibromatosis type 1.

Ben Shofty1,2, Ori Barzilai3, Morsi Khashan1, Zvi Lidar1, Shlomi Constantini4,5.   

Abstract

BACKGROUND: Neurofibromatosis type 1 (NF1) patients may present a wide spectrum of spinal pathologies. Osseous changes may lead to severe deformities with significant implications on growth and quality of life. Neurogenic tumors and soft tissue abnormalities may cause neuropathic pain and dysfunction ranging from minor paresthesias to profound motor and sensory deficits. Advanced imaging such as whole-body MRI, and volumetric tumor burden assessment have an evolving role in the evaluation and follow-up of patients with high spinal tumor load. Novel biological agents that target the hyperactivated ras pathway are currently under investigation and are reshaping current and future treatment paradigms. Surgical interventions for benign and malignant tumors, as well as deformity correction remain pivotal in treatment frameworks and require careful assessment by a dedicated multidisciplinary team.
PURPOSE: In this manuscript we review the various spinal manifestations of NF1 patients, indication for surgical intervention and oncological treatments.

Entities:  

Keywords:  MEK; NF1; Neurofibroma; Plexiform; Spine

Mesh:

Year:  2020        PMID: 32564155     DOI: 10.1007/s00381-020-04754-9

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


  41 in total

1.  Preclinical Evidence for the Use of Sunitinib Malate in the Treatment of Plexiform Neurofibromas.

Authors:  Michael J Ferguson; Steven D Rhodes; Li Jiang; Xiaohong Li; Jin Yuan; Xianlin Yang; Shaobo Zhang; Saeed T Vakili; Paul Territo; Gary Hutchins; Feng-Chun Yang; David A Ingram; D Wade Clapp; Shi Chen
Journal:  Pediatr Blood Cancer       Date:  2015-09-16       Impact factor: 3.167

2.  Incidence and mortality of neurofibromatosis: a total population study in Finland.

Authors:  Elina Uusitalo; Jussi Leppävirta; Anna Koffert; Sakari Suominen; Jussi Vahtera; Tero Vahlberg; Minna Pöyhönen; Juha Peltonen; Sirkku Peltonen
Journal:  J Invest Dermatol       Date:  2014-10-29       Impact factor: 8.551

Review 3.  Musculoskeletal manifestations of neurofibromatosis type 1.

Authors:  Neel B Patel; Gregory Scott Stacy
Journal:  AJR Am J Roentgenol       Date:  2012-07       Impact factor: 3.959

4.  Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study.

Authors:  Brian Weiss; Brigitte C Widemann; Pamela Wolters; Eva Dombi; Alexander Vinks; Alan Cantor; John Perentesis; Elizabeth Schorry; Nicole Ullrich; David H Gutmann; James Tonsgard; David Viskochil; Bruce Korf; Roger J Packer; Michael J Fisher
Journal:  Neuro Oncol       Date:  2014-10-14       Impact factor: 12.300

5.  Surgical management of cervical spine manifestations of neurofibromatosis Type 1: long-term clinical and radiological follow-up in 22 cases.

Authors:  Faisal S Taleb; Abhijit Guha; Paul M Arnold; Michael G Fehlings; Eric M Massicotte
Journal:  J Neurosurg Spine       Date:  2011-01-14

6.  Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.

Authors:  Eva Dombi; Andrea Baldwin; Leigh J Marcus; Michael J Fisher; Brian Weiss; AeRang Kim; Patricia Whitcomb; Staci Martin; Lindsey E Aschbacher-Smith; Tilat A Rizvi; Jianqiang Wu; Rachel Ershler; Pamela Wolters; Janet Therrien; John Glod; Jean B Belasco; Elizabeth Schorry; Alessandra Brofferio; Amy J Starosta; Andrea Gillespie; Austin L Doyle; Nancy Ratner; Brigitte C Widemann
Journal:  N Engl J Med       Date:  2016-12-29       Impact factor: 91.245

Review 7.  The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Authors:  M Ruggieri; A Polizzi; A Spalice; V Salpietro; R Caltabiano; V D'Orazi; P Pavone; C Pirrone; G Magro; N Platania; S Cavallaro; M Muglia; F Nicita
Journal:  Clin Genet       Date:  2014-11-22       Impact factor: 4.438

8.  Diagnosis, treatment and survival of 65 patients with malignant peripheral nerve sheath tumors.

Authors:  Ole Goertz; Stefan Langer; Daniela Uthoff; Andrej Ring; Ingo Stricker; Andrea Tannapfel; Hans-Ulrich Steinau
Journal:  Anticancer Res       Date:  2014-02       Impact factor: 2.480

9.  Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis.

Authors:  Vanessa L Merker; Miriam A Bredella; Wenli Cai; Ara Kassarjian; Gordon J Harris; Alona Muzikansky; Rosa Nguyen; Victor F Mautner; Scott R Plotkin
Journal:  Am J Med Genet A       Date:  2014-03-24       Impact factor: 2.802

10.  Phase II trial of pegylated interferon alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas.

Authors:  Regina I Jakacki; Eva Dombi; Seth M Steinberg; Stewart Goldman; Mark W Kieran; Nicole J Ullrich; Ian F Pollack; Anne Goodwin; Peter E Manley; Jason Fangusaro; Rudy Allen; Brigitte C Widemann
Journal:  Neuro Oncol       Date:  2017-02-01       Impact factor: 12.300

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  2 in total

Review 1.  [Spinal deformity in neurofibromatosis type 1].

Authors:  Christoph-E Heyde; A Völker; N H von der Höh; S Glasmacher; H Koller
Journal:  Orthopade       Date:  2021-07-08       Impact factor: 1.087

2.  Efficacy of Cannabinoids on Spasticity and Chronic Pain in a Patient with Co-occurrence of Multiple Sclerosis and Neurofibromatosis Type 1.

Authors:  Eleonora Virgilio; Domizia Vecchio; Paola Naldi; Roberto Cantello
Journal:  Eur J Case Rep Intern Med       Date:  2021-05-13
  2 in total

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