Neurofibromatose Online (Neurofibromatosis)
– Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos. Devido à sua variabilidade fenotípica, curso progressivo, multiplicidade de órgãos acometidos e evolução imprevisível, as NF frequentemente necessitam de especialistas em NF para o acompanhamento.
– A neurofibromatose tipo I (doença de von Recklinghausen) é uma doença autossômica dominante cujo diagnóstico é feito com base em critérios clínicos. É um distúrbio relacionado a mutações no gene neurofibromina 1 (NF1), um gene supressor tumoral. As três principais manifestações: neurofibromas, manchas café com leite e nódulos de Lisch ocorrem em mais de 90% dos pacientes até a puberdade. Além dos neuromas acústicos unilaterais, a neurofibromatose 1, podem também apresentar, sardas axilares e inguinais, gliomas ópticos, hamartomas de íris e lesões ósseas displásicas. Atualmente, não existe cura para a NF1, porém existem medidas paliativas que melhoram as perspectivas de vida útil dos indivíduos afetados. São pacientes que, em geral, apresentam expectativa de vida normal, atividades acadêmicas e profissionais produtivas, além de vida afetiva regular. O aconselhamento genético é importante no intuito de orientar os pais de uma criança afetada, assim como esclarecê-los a respeito do risco de recorrência em outras gestações
– A neurofibromatose tipo II é um distúrbio autossômico dominante raro, causado por gene para neurofibromina 2 (NF2), um inibidor da proliferação celular contato-dependente. Suas principais características são os neuromas acústicos bilaterais, que podem ser acompanhados por outros tumores do sistema nervoso central ou periférico, incluindo neurofibromas, meningiomas, gliomas e schwannomas.
■ Increase breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature
Lorena P. Suarez-Kelly, Lianbo Yu et al
Hered Cancer Clin Pract. 2019; 17: 12
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434896/
■ Jejunal stromal tumor and neurofibromatosis.
Kayser, Daniela Fonseca Lisboa et al.
- Coloproctol. (Rio J.), Dec 2019, vol.39, no.4, p.385-388
■ Correction of severe dystrophic scoliosis in neurofibromatosis 1 with posterior vertebral column resection in multiple levels
Barros, Alderico Girão Campos de et al
Coluna/Columna, Sept 2019, vol.18, no.3, p.187-191
■ Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association?
Mbekeani, Joyce N. et al.
Arq. Bras. Oftalmol., Mar 2019, vol.82, no.2, p.155-157
■ Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool
Marie-Laure Armand, Charles Taieb, Aline Bourgeois et al
the French national network on rare skin diseases (FIMARAD)
Orphanet J Rare Dis. 2019; 14: 94.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500066/
■ Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study
Akram Sanagoo, Leila Jouybari, Fatemeh Koohi, Fatemeh Sayehmiri
BMC Neurol. 2019; 19: 123.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560778/
■ Impact of surgery on long-term results of hearing in neurofibromatosis type-2 associated vestibular schwannomas
Isabel Gugel, Florian Grimm, Marina Liebsch, et al
Cancers (Basel) 2019 Sep; 11(9): 1376
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770212/
■ Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1
Bahir H. Chamseddin, La’Nette Hernandez, Dezehree Solorzano, Juan Vega, Lu Q. Le
JCI Insight. 2019 Jun 6; 4(11): e128881
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629109/
■ Cutaneous neurofibromas in the genomics era: current understanding and open questions
R J Allaway, S J C Gosline, S La Rosa et al
British Journal of Cancer 2018, vol 118: 1539-1548
https://www.nature.com/articles/s41416-018-0073-2
■ Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos.
Cammarata-Scalisi, Francisco et al.
Bol. Med. Hosp. Infant. Mex., Oct 2018, vol.75, no.5, p.287-294
http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1665-11462018000500287&lng=es&nrm=iso
■ Early genetic diagnosis of neurofibromatosis type 2 from skin plaque pexiform schwannomas in childhood
Elisabeth Castellanos, Adrià Plana, Cristina Carrato et al
for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP
JAMA Dermatol. 2018 Mar; 154(3): 341–346
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885846/
■ A recurrent laryngeal nerve malignant peripheral nerve sheath tumor in a child with neurofibromatosis type 1.
Alves Júnior, Sérgio Ferreira et al.
Arq. Neuro-Psiquiatr., Sept 2018, vol.76, no.9, p.635-635
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000900635&lng=en&nrm=iso
■ Amusia and its electrophysiological correlates in neurofibromatosis type 1.
Cota, Bruno Cézar Lage et al.
Arq. Neuro-Psiquiatr., May 2018, vol.76, no.5, p.287-295
■ Attention déficit hyperactivity disorderr in neurofibromatosis type 1: evaluation with a continuouus performance test
Rony Cohen, Ayelet Halevy, Sharon Aharon, Avinoam Shuper
J Clin Neurol. 2018 Apr; 14(2): 153–157
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897196/
■ The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors
Christine S Higham, Eva Dombi, Aljosja Rogiers, et al
Neuro Oncol. 2018 May; 20(6): 818–825
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961015/
■ Surgical Treatment of a Massive Neurofibroma of the Head and Neck in a Patient with Neurofibromatosis Type 1: A Case Report
Qin, Haiyan et al.
Int. J. Morphol., Mar 2018, vol.36, no.1, p.194-20
https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0717-95022018000100194&lng=es&nrm=iso
■ Medullary unidentified bright objects in neurofibromatosis typ 1: a case series
Alessandra D’Amico, Federica Mazio, Lorenzo Ugga et al
BMC Pediatr. 2018; 18: 91.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832195/
■ Cutaneous neurofibromas in neurofibromatosis type I: a quantiative natural history study
Ashley Cannon, Mei-Jan Chen, Peng Li, et al
Orphanet J Rare Dis. 2018; 13: 31.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803843/
■ Cutaneous neurofibromas in the genomics era: current understanding and open question
Robert J. Allaway, Sara J. C. Gosline, Salvatore La Rosa et al
Br J Cancer. 2018 Jun 12; 118(12): 1539–1548
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008439/
■ Worries and needs of adults and parentes of adults with neurofibromatosis type 1
Andre B. Rietman, Hanneke van Helden, Pauline H. Both et a
Am J Med Genet A. 2018 May; 176(5): 1150–1160
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947156/
■ Increased insulin sensitivity in individuals with neurofibromatosis type 1.
Martins, Aline Stangherlin et al.
Arch. Endocrinol. Metab., Feb 2018, vol.62, no.1, p.41-46
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972018000100041&lng=en&nrm=iso
■ Estimulación eléctrica medular en el paciente con neurofibromatosis tipo 1: reporte de un caso
Rojas-Fernández, V. et al.
Rev. Soc. Esp. Dolor, Ago 2017, vol.24, no.4, p.211-214
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1134-80462017000400211&lng=es&nrm=iso
■ Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1.Vasconcelos, Roberto Andr
Torres de et al.
Arq. Neuro-Psiquiatr., June 2017, vol.75, no.6, p.366-371
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000600366&lng=en&nrm=iso
■ Revising neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis
Miriam J. Smith, Naomi L. Bowers, Michael Bulman, et al
Neurology. 2017 Jan 3; 88(1): 87–92
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5200853/
■ Computerized cognitive training for children with neurofibromatosis type 1: a pilot resting-state fMRI study
Yuliya N. Yoncheva, Kristina K. Hardy, Daniel J. Lurie,
Psychiatry Res. 2017 Aug 30; 266: 53–58
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582983/
■ Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas
Susan Byrne, Steve Connor, Karine Lascelles, et al
J Neurooncol. 2017; 133(3): 609–614
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537330/
■ Receptor of ghrelin is expressed in cutaneous neurofibroma of individuals with neurofibromatosis 1
Rafaela E. Rozza-de-Menezes, Nicolle C. Gaglionone, Raquel M. Andrade-Losso et al
Orphanet J Rare Dis. 2017; 12: 186
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738781/
■ Orbital/Peri-orbital plexiform neurofibromas in children with neurofibromatosis type 1: multi-disciplinary recommendations for care
Robert A. Avery, James A. Katowitz, Michael J. Fisher, et al
Ophthalmology. 2017 Jan; 124(1): 123–132
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5173440/
■ Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the impacto f NF1 on Quality of Life (INF1-QOL) questionnaire
Rosalie E Ferner, Mary Thomas, Gemma Mercer, et al
Health Qual Life Outcomes. 2017; 15: 34.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307827/
■ Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
Barmak Abdolrahimzadeh, Domenica Carmen Piraino, Giorgio Albanese et al
Clin Ophthalmol. 2016; 10: 851–860
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874640/
■ Current status and recommendations for biomarkers and biobanking in neurofibromatosis
- Oliver Hanemann, Jaishri O. Blakeley, Fabio P. Nunes et al
For the REiNS International Collaboration
Neurology. 2016 Aug 16; 87(7 Suppl 1): S40–S48
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578360/
■ Efficacy and biomarker study of bevacizumab for hearing loss resulting from neurofibromatosis type 2-associated vestibular schwannomas
Jaishri O. Blakeley, Xiaobu Ye, Dan G. Duda et al
J Clin Oncol. 2016 May 10; 34(14): 1669–1675.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872317/
■ Characterization and utilization of an international neurofibromatosis web-based patient-entered registry: an observational study
Mindell Seidlin, Robert Holzman, Pamela Knight, et al
on behalf of the Children’s Tumor Foundation
PLoS One. 2017; 12(6): e0178639
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482445/
■ Neurofibromatosis: a review of NF1, NF2, and schwannomatosis
Jesse Lee Kresak, Meggen Walsh
J Pediatr Genet. 2016 Jun; 5(2): 98–104
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918700/
■ Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies
- Ruggieri, A.D. Praticò, A. Serra, L. Maiolino et al
Acta Otorhinolaryngol Ital. 2016 Oct; 36(5): 345–367
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225790/
■ Cochlear implant in a patient with neurofibromatosis type 2 undergoing radiotherapy.
Pimentel, Patrícia Santos et al.
Braz. j. otorhinolaryngol., Apr 2016, vol.82, no.2, p.242-243
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942016000200242&lng=en&nrm=iso
■ Body composition in adults with neurofibromatosis type 1.
Souza, Marcio et al
Rev. Assoc. Med. Bras., Dec 2016, vol.62, no.9, p.831-836
■ Disease burden and symptom structure of autismo in neurofibromatosis type 1: a study of the International NF1 Consortium Team (INFACT)
Stephanie M. Morris, Maria T. Acosta, Shruti Garg et al
JAMA Psychiatry. 2016 Dec 1; 73(12): 1276–1284
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5298203/
■ Avaliação da motricidade orofacial em indivíduos com neurofibromatose tipo 1.
Silva, Carla Menezes da, Santos, Cristiane Aparecida dos and Rezende, Nilton Alves de
Rev. CEFAC, Fev 2015, vol.17, no.1, p.100-110
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-18462015000100100&lng=en&nrm=iso
■ Neurofibromatosis tipo 1 (NF1) y su diagnóstico molecular como estrategia del diagnóstico diferencial y a edades tempranas.
Gómez, Martha and Batista, Oriana
Rev. méd. Chile, Oct 2015, vol.143, no.10, p.1320-133
https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872015001000011&lng=es&nrm=iso
■ Neurofibromatoses: part 1 – Diagnosis and differential diagnosis.
Rodrigues, Luiz Oswaldo Carneiro et al.
Arq. Neuro-Psiquiatr., Mar 2014, vol.72, no.3, p.241-250
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000300241&lng=en&nrm=iso
■ Neurofibromatosis: part 2 – clinical management
Batista, Pollyanna Barros et al.
Arq. Neuro-Psiquiatr., June 2015, vol.73, no.6, p.531-543
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000600531&lng=en&nrm=iso
■ Estimulación eléctrica medular en el paciente con neurofibromatosis tipo 1: reporte de un caso
Rojas-Fernández, V. et al.
Rev. Soc. Esp. Dolor, Ago 2017, vol.24, no.4, p.211-214
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1134-80462017000400211&lng=es&nrm=iso
■ Neurofibromatosis: type 1 and 2
S Borofsky and L M Levy
American Journal of Neuroradiology 2013, vol 34 (12)
http://www.ajnr.org/content/34/12/2250
■ Neurofibromatose tipo 1: relato de um caso clínico.
Marques, Ana Catarina and Dinis, Fátima
Rev Port Med Geral Fam, Set 2013, vol.29, no.5, p.322-326
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S2182-51732013000500007&lng=pt&nrm=iso
■ Dr Paulo Fernando Leite
Cardiologia/Prevenção Cardiovascular
Estratificação de Risco Cardiovascular
Consultório: Rua Padre Rolim 815/sala 601
Tel: 33245518
CRMMG: 7026
Email: pfleite1873@gmail.com
Data: Dez 2019