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[PMID]:29384852
[Au] Autor:Jordan JT; Smith MJ; Walker JA; Erdin S; Talkowski ME; Merker VL; Ramesh V; Cai W; Harris GJ; Bredella MA; Seijo M; Suuberg A; Gusella JF; Plotkin SR
[Ad] Endereço:Department of Neurology.
[Ti] Título:Pain correlates with germline mutation in schwannomatosis.
[So] Source:Medicine (Baltimore);97(5):e9717, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13.5%) and SMARCB1 in 15 patients (40.5%), but found no germline mutation in 17 patients (45.9%). Peripheral schwannomas were detected in 3 LZTR1-mutant (60%) and 10 SMARCB1-mutant subjects (66.7%). Among those with peripheral tumors, the median tumor number was 4 in the LZTR1 group (median total body tumor volume 30 cc) and 10 in the SMARCB1 group (median volume 85cc), (P=.2915 for tumor number and P = .2289 for volume). mutation was associated with an increased prevalence of spinal schwannomas (100% vs 41%, P = .0197). The median pain score was 3.9/10 in the LZTR1 group and 0.5/10 in the SMARCB1 group (P = .0414), and SF-36 pain-associated quality of life was significantly worse in the LZTR1 group (P = .0106). Pain scores correlated with total body tumor volume (rho = 0.32471, P = .0499), but not with number of tumors (rho = 0.23065, P = .1696).We found no significant difference in quantitative tumor burden between mutational groups, but spinal schwannomas were more common in LZTR1-mutant patients. Pain was significantly higher in LZTR1-mutant than in SMARCB1-mutant patients, though spinal tumor location did not significantly correlate with pain. This suggests a possible genetic association with schwannomatosis-associated pain.
[Mh] Termos MeSH primário: Dor do Câncer/genética
Mutação em Linhagem Germinativa
Neurilemoma/genética
Neurofibromatoses/genética
Neoplasias Cutâneas/genética
[Mh] Termos MeSH secundário: Adulto
Dor do Câncer/diagnóstico por imagem
Dor do Câncer/fisiopatologia
Estudos de Coortes
Feminino
Estudos de Associação Genética
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Neurilemoma/diagnóstico por imagem
Neurilemoma/fisiopatologia
Neurofibromatoses/diagnóstico por imagem
Neurofibromatoses/fisiopatologia
Medição da Dor
Qualidade de Vida
Proteína SMARCB1/genética
Neoplasias Cutâneas/diagnóstico por imagem
Neoplasias Cutâneas/fisiopatologia
Fatores de Transcrição/genética
Carga Tumoral
Imagem Corporal Total
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (LZTR1 protein, human); 0 (SMARCB1 Protein); 0 (SMARCB1 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009717


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[PMID]:29252406
[Au] Autor:Ngo-Huang A; Yadav R; Fu JB; Liu D; Williams JL; Bruera E; Guo Y
[Ad] Endereço:From the Department of Palliative, Rehabilitation, and Integrative Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas (AN-H, RY, JBF, JLW, EB, YG); and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas (DL).
[Ti] Título:Mobility Functional Outcomes of Neurofibromatosis Patients: A Preliminary Report.
[So] Source:Am J Phys Med Rehabil;97(1):41-49, 2018 Jan.
[Is] ISSN:1537-7385
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The aim of the study was to describe the mobility outcomes of neurofibromatosis (NF) patients who received acute inpatient rehabilitation. DESIGN: This is a retrospective study of 62 consecutive neurofibromatosis patients of any age who received physical medicine and rehabilitation consultations at a comprehensive cancer center. Postoperative, inpatient rehabilitation admission and discharge functional independence measures (FIM scores) of transfers and gait and length of hospital stay were obtained from 37 patients who were transferred to inpatient rehabilitation (acute rehabilitation) and 25 who had an alternative disposition (consultation only). RESULTS: Mean age was 34 yrs. Both groups had similar postoperative FIM transfer and gait scores; however, at approximately postoperative day 10, the consultation only group was discharged with median FIM of 5 (supervision level) as compared with the acute rehabilitation group FIM of 4 (P = 0.000). The acute rehabilitation group had improved mobility FIM scores from postoperative to rehabilitation admission and again from rehabilitation admission to discharge (P < 0.0001). At discharge, the acute rehabilitation group ambulated a significantly longer distance (500 f. vs. 300 ft) (P = 0.04). The median length of hospital stay for the acute rehabilitation and consultation only groups was 20 and 10 days, respectively (P = 0.004). CONCLUSIONS: Acute inpatient rehabilitation leads to improvement in mobility-associated FIM scores for neurofibromatosis patients minimizing caregiver needs at home.
[Mh] Termos MeSH primário: Atividades Cotidianas
Avaliação da Deficiência
Neurofibromatoses/fisiopatologia
Neurofibromatoses/reabilitação
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Tempo de Internação
Masculino
Recuperação de Função Fisiológica
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171227
[Lr] Data última revisão:
171227
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171219
[St] Status:MEDLINE
[do] DOI:10.1097/PHM.0000000000000842


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[PMID]:29202147
[Au] Autor:Laurent KJ; Beachkofsky TM; Loyd A; Neiner JR
[Ad] Endereço:San Antonio Uniformed Services Health Education Consortium, TX, USA.
[Ti] Título:Segmental distribution of nodules on trunk.
[So] Source:J Fam Pract;66(12):765-767, 2017 Dec.
[Is] ISSN:1533-7294
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 70-year-old Caucasian man presented with a longstanding history of numerous nontender, fleshy, skin-colored papules on his trunk, ranging from 3 to 8 mm in size. They were noted incidentally during an examination of unrelated nonhealing lesions on the patient's left cheek. He said the lesions on his trunk first appeared when he was 28 years old and had continued to grow in size and number. The patient said his son had at least one similar lesion on his upper back, but otherwise there was no family history of these lesions. A biopsy was performed on one of the nodules. WHAT IS YOUR DIAGNOSIS? HOW WOULD YOU TREAT THIS PATIENT?
[Mh] Termos MeSH primário: Neurofibromatoses/diagnóstico
Tórax
[Mh] Termos MeSH secundário: Idoso
Biópsia
Diagnóstico Diferencial
Seres Humanos
Achados Incidentais
Masculino
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171208
[Lr] Data última revisão:
171208
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE


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[PMID]:28644838
[Au] Autor:Seidlin M; Holzman R; Knight P; Korf B; Rangel Miller V; Viskochil D; Bakker A; Children's Tumor Foundation
[Ad] Endereço:Children's Tumor Foundation, New York, United States of America.
[Ti] Título:Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.
[So] Source:PLoS One;12(6):e0178639, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient. The rarity and variability of these disorders has made it challenging for investigators to identify sufficient numbers of patients with particular clinical characteristics or specific germline mutations for participation in interventional studies. Similarly, because the natural history of all types of neurofibromatosis (NF) is variable and unique for each individual, it is difficult to identify meaningful clinical outcome measures for potential therapeutic interventions. In 2012, the Children's Tumor Foundation created a web-based patient-entered database, the NF Registry, to inform patients of research opportunities for which they fit general eligibility criteria and enable patients to contact investigators who are seeking to enroll patients in approved trials. Registrants were recruited through CTF-affiliated NF clinics and conferences, through its website, and by word-of-mouth and social media. Following online consent, demographic information and details regarding manifestations of NF were solicited on the Registry website. Statistical analyses were performed on data from a cohort of 4680 registrants (the number of registrants as of October 9, 2015) who met diagnostic criteria for one of the 3 NF conditions. The analyses support our hypothesis that patient-reported symptom incidences in the NF Registry are congruent with published clinician-sourced data. Between April 26, 2013 and July 8, 2016, the registry has been useful to investigators in recruitment, particularly for observational trials, especially those for development of patient-reported outcomes.
[Mh] Termos MeSH primário: Internet
Neurofibromatoses
Sistema de Registros
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Pesquisa Biomédica/métodos
Criança
Pré-Escolar
Ensaios Clínicos como Assunto
Confidencialidade
Curadoria de Dados
Feminino
Seres Humanos
Lactente
Internacionalidade
Masculino
Meia-Idade
Neurofibromatoses/epidemiologia
Participação do Paciente
Controle de Qualidade
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170624
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0178639


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[PMID]:28640700
[Au] Autor:Campian J; Gutmann DH
[Ad] Endereço:All authors: Washington University School of Medicine, St. Louis, MO.
[Ti] Título:CNS Tumors in Neurofibromatosis.
[So] Source:J Clin Oncol;35(21):2378-2385, 2017 Jul 20.
[Is] ISSN:1527-7755
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2. Although children with NF1 are at risk for developing low-grade gliomas of the optic pathway and brainstem, individuals with NF2 typically manifest low-grade tumors affecting the cranial nerves (vestibular schwannomas), meninges (meningiomas), and spinal cord (ependymomas). With the identification of the NF1 and NF2 genes, molecularly targeted therapies are beginning to emerge, as a result of a deeper understanding of the mechanisms underlying NF1 and NF2 protein function. As we enter into an era of precision oncology, a more comprehensive awareness of the factors that increase the risk of developing CNS cancers in affected individuals, coupled with a greater appreciation of the cellular and molecular determinants that maintain tumor growth, will undoubtedly yield more effective therapies for these cancer predisposition syndromes.
[Mh] Termos MeSH primário: Neoplasias do Sistema Nervoso Central/diagnóstico
Neoplasias do Sistema Nervoso Central/etiologia
Neoplasias do Sistema Nervoso Central/terapia
Neurofibromatoses/complicações
[Mh] Termos MeSH secundário: Neoplasias do Sistema Nervoso Central/patologia
Criança
Ensaios Clínicos como Assunto
Terapia Combinada
Seres Humanos
Terapia de Alvo Molecular
Gradação de Tumores
Neurofibromatoses/genética
Neuroimagem
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170623
[St] Status:MEDLINE
[do] DOI:10.1200/JCO.2016.71.7199


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[PMID]:28605748
[Au] Autor:Tassano E; Giacomini T; Severino M; Gamucci A; Fiorio P; Gimelli G; Ronchetto P
[Ad] Endereço:Laboratory of Cytogenetics, Giannina Gaslini Institute, Genoa, Italy.
[Ti] Título:Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
[So] Source:Cytogenet Genome Res;152(1):22-28, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11.2 microduplications. We also analyzed the gene content of the duplicated region in order to investigate the possible role of specific genes in the clinical phenotype of our patient.
[Mh] Termos MeSH primário: Duplicação Cromossômica
Anormalidades Craniofaciais/patologia
Deficiência Intelectual/patologia
Transtornos de Aprendizagem/patologia
Neurofibromatoses/patologia
[Mh] Termos MeSH secundário: Encéfalo/patologia
Criança
Deleção Cromossômica
Cromossomos Humanos/genética
Cromossomos Humanos Par 17
Hibridização Genômica Comparativa
Facies
Feminino
Seres Humanos
Lactente
Recém-Nascido
Cariotipagem
Imagem por Ressonância Magnética
Masculino
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.1159/000477292


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[PMID]:28250072
[Au] Autor:Korf BR; Bebin EM
[Ad] Endereço:Departments of Genetics and.
[Ti] Título:Neurocutaneous Disorders in Children.
[So] Source:Pediatr Rev;38(3):119-128, 2017 Mar.
[Is] ISSN:1526-3347
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come.
[Mh] Termos MeSH primário: Neurofibromatoses/diagnóstico
Síndrome de Sturge-Weber/diagnóstico
Esclerose Tuberosa/diagnóstico
[Mh] Termos MeSH secundário: Criança
Diagnóstico Diferencial
Testes Genéticos
Seres Humanos
Neurofibromatoses/genética
Neurofibromatoses/terapia
Síndrome de Sturge-Weber/genética
Síndrome de Sturge-Weber/terapia
Esclerose Tuberosa/genética
Esclerose Tuberosa/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170303
[St] Status:MEDLINE
[do] DOI:10.1542/pir.2015-0118


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[PMID]:28211981
[Au] Autor:Riklin E; Talaei-Khoei M; Merker VL; Sheridan MR; Jordan JT; Plotkin SR; Vranceanu AM
[Ad] Endereço:Department of Psychiatry, Benson-Henry Institute for Mind Body Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
[Ti] Título:First report of factors associated with satisfaction in patients with neurofibromatosis.
[So] Source:Am J Med Genet A;173(3):671-677, 2017 03.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Patient satisfaction is an integral part of quality health care. We assessed whether health literacy and psychosocial factors are associated with patient satisfaction among adults with neurofibromatosis. Eighty adults (mean age = 44 years; 55% female, 87% white) with NF (50% NF1, 41% NF2, and 9% schwannomatosis) completed an adapted Functional, Communicative, and Critical Health Literacy Questionnaire (FCCHL), the Health Literacy Assessment, a series of Patient Reported Outcome Measures Information System (PROMIS) psychosocial tests, and demographics before the medical visit. After, participants completed two measures of satisfaction: the Medical Interview Satisfaction Scale (MISS) to assess satisfaction with the medical visit, and an adapted version of the Consumer Assessment of Healthcare Providers and Systems Health Literacy Item Set (CAHPS-HL) to assess satisfaction with communication with the provider. Although higher FCCHL health literacy (r = 0.319, P = 0.002), male gender (t = 2.045, P = 0.044) and better psychosocial functioning (r = -0.257 to 0.409, P < 0.05) were associated with higher satisfaction with the medical visit in bivariate correlations, only male gender and higher health literacy remained as significant predictors in multivariable analyses. Higher FCCHL health literacy, less pain interference, fewer pain behaviors, and higher satisfaction with social roles and social discretionary activities (r = -0.231 to 0.331, P < 0.05) were associated with higher satisfaction with the communication with the provider in bivariate analyses. Results support the use of psychosocial and health literacy measures in clinical practice. Referrals to psychosocial treatments in addition to brief interventions focused on increasing health literacy may also be beneficial. © 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Neurofibromatoses/epidemiologia
Satisfação do Paciente
[Mh] Termos MeSH secundário: Adulto
Comunicação
Estudos Transversais
Gerenciamento Clínico
Análise Fatorial
Feminino
Alfabetização em Saúde
Seres Humanos
Masculino
Meia-Idade
Neurofibromatoses/diagnóstico
Neurofibromatoses/terapia
Avaliação de Resultados (Cuidados de Saúde)
Autorrelato
Inquéritos e Questionários
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170218
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38079


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[PMID]:28078568
[Au] Autor:Ruggieri M; Praticò AD; Caltabiano R; Polizzi A
[Ad] Endereço:Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, AOU "Policlinico-Vittorio Emanuele", Presidio "G. Rodolico", University of Catania, Via S. Sofia, 78, 95124, Catania, Italy.
[Ti] Título:Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).
[So] Source:Neurol Sci;38(3):493-499, 2017 Mar.
[Is] ISSN:1590-3478
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:In 1849, the Irish Professor of Surgery, Sir Robert William Smith, by publishing his "Treatise on the Pathology, Diagnosis and Treatment of Neuroma", collected six previous examples of "general development of neuromatous tumours" and reported three further cases (two personal and one referred) of what is nowadays known as neurofibromatosis. Among these latter cases, there was a 35-year-old cattle-driver, John McCann, who was first admitted at hospital in 1840 because of a large tumour on the right side of his neck thought to be malignant (and a second tumour sublingually) but not operated. McCann was readmitted in 1843 ("in an emaciated state"), because of an immense tumour in his thigh dying few months later "with hepatic symptoms". Smith's post-mortem examination revealed dozens of smaller additional tumours. Based on application of modern diagnostic criteria (to McCann's portrait at second referral) and on pathological grounds (reconsideration of the histopathological report of McCann's neuroma of the thigh), we tentatively hypothesise that this patient could be the earliest (illustrated) example of either: (1) a malignant peripheral nerve sheath tumour (MPNST); (2) neurofibromatosis type 2 (NF2); or (3) schwannomatosis (SWNTS). The progressively enlarging masses, the emaciated state and the later death are in favour of a MPNST (against is the lack of malignant appearance at histopathology); the clinical (and gross pathological) appearance of the tumours as large, rounded, encapsulated, eccentric lesions deflecting the parent nerve over the surface of the tumour is typical of schwannomas (thus, in favour of NF2 or SWTNS). Whatever diagnosis we could consider these tumours could be secondary to a (local) mosaic loss of heterozygosity and ultimately represent type 2 segmental manifestations superimposed on an ordinary autosomal dominant trait (i.e., NF1, NF2 or SWTNS).
[Mh] Termos MeSH primário: Neurilemoma/história
Neurofibromatoses/história
Neurologia/história
Neuroma/história
Patologia/história
Neoplasias Cutâneas/história
[Mh] Termos MeSH secundário: Adulto
História do Século XIX
Seres Humanos
Irlanda
Masculino
[Pt] Tipo de publicação:BIOGRAPHY; CASE REPORTS; HISTORICAL ARTICLE; JOURNAL ARTICLE; PORTRAITS
[Ps] Nome de pessoa como assunto:Smith RW
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170113
[St] Status:MEDLINE
[do] DOI:10.1007/s10072-016-2797-1


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[PMID]:27921248
[Au] Autor:Kehrer-Sawatzki H; Farschtschi S; Mautner VF; Cooper DN
[Ad] Endereço:Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany. hildegard.kehrer-sawatzki@uni-ulm.de.
[Ti] Título:The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
[So] Source:Hum Genet;136(2):129-148, 2017 Feb.
[Is] ISSN:1432-1203
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours. Although biallelic mutations of SMARCB1 or LZTR1 have been detected in the tumours of patients with schwannomatosis, the classical two-hit model of tumorigenesis is insufficient to account for schwannoma growth, since NF2 is also frequently inactivated in these tumours. Consequently, tumorigenesis in schwannomatosis must involve the mutation of at least two different tumour suppressor genes, an occurrence frequently mediated by loss of heterozygosity of large parts of chromosome 22q harbouring not only SMARCB1 and LZTR1 but also NF2. Thus, schwannomatosis is paradigmatic for a tumour predisposition syndrome caused by the concomitant mutational inactivation of two or more tumour suppressor genes. This review provides an overview of current models of tumorigenesis and mutational patterns underlying schwannomatosis that will ultimately help to explain the complex clinical presentation of this rare disease.
[Mh] Termos MeSH primário: Carcinogênese/genética
Genes Supressores de Tumor
Neurilemoma/genética
Neurofibromatoses/genética
Neoplasias Cutâneas/genética
[Mh] Termos MeSH secundário: Alelos
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
Neurofibromatose 2/genética
Proteína SMARCB1/genética
Fatores de Transcrição/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (LZTR1 protein, human); 0 (SMARCB1 Protein); 0 (Transcription Factors)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170726
[Lr] Data última revisão:
170726
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161207
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-016-1753-8



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