Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

Ferner, Robin E; Huson, Susan M.; Thomas, Nick; Moss, Celia; Willshaw, H E; Evans, D. Gareth; Upadhyaya, Meena; Towers, Richard; Gleeson, Michael; Steiger, Christine; Kirby, Amanda

doi:10.1136/jmg.2006.045906

Cited by 859 publications

(893 citation statements)

References 63 publications

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“…These findings expand on current recommendations for the management of NF1 (Ferner et al, 2007). Suggestions for clinical practice are listed in Table 4: “Addressing health care needs during NF1 consultation.”…”

Section: Discussionsupporting

confidence: 84%

Worries and needs of adults and parents of adults with neurofibromatosis type 1

Rietman

Helden²,

Both³

et al. 2018

American J of Med Genetics Pt A

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Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder associated with lifelong tumor growth propensity and neurocognitive impairments. Although follow‐up of adults with NF1 often focuses on tumor growth, follow‐up of cognitive or social problems and other NF1‐related comorbidity is often not a part of standardized care. In order to provide optimal care services for these patients, we explored the care needs of adults with NF1. A qualitative study was performed using semi‐structured group interviews, exploring worries and care needs in medical, psychological, and socioeconomic domains, also focusing on the transition from pediatric to adult care. Four focus groups were conducted, including young adult patients, patients over age 30, and parents of young adult patients. In total, 30 patients and 12 parents participated. Data were transcribed verbatim and analyzed by computerized thematic analysis. Themes were organized using the World Health Organization International classification of functioning, disability, and health (ICF). Results indicated many and diverse worries and care needs both during the transitional period and in adulthood in medical, mental health, and socioeconomic domains. Worries could be categorized into 13 themes. Parents reported high stress levels and difficulties with their parental role. Participants expressed the need for more information, access to NF1 experts, daily living support, care for mental health and socioeconomic participation, and closer communication between health‐care providers. In conclusion, worries and needs of patients and parents underline the importance of multidisciplinary follow‐up and continuity of care during and after the transitional period. Additionally, parental stress requires more attention from care providers.

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Section: Discussionsupporting

confidence: 84%

Worries and needs of adults and parents of adults with neurofibromatosis type 1

Rietman

Helden²,

Both³

et al. 2018

American J of Med Genetics Pt A

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show abstract

“…Therefore, the follow-up of these patients after surgery is important. As for NF1, despite lack of formal recommendation for laboratory screening of endocrine dysfunctions in patients that carry this disease (6,24), the possibility should be considered, and detailed analysis of clinical and familiar history may contribute for the diagnosis and early treatment of these diseases.…”

Section: Discussionmentioning

confidence: 99%

Association between atypical parathyroid adenoma and neurofibromatosis

Favere

Tsukumo

Matos

et al. 2015

Arch. Endocrinol. Metab.

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“…The French NF1 database constituted through this program included a collection of 565 families, consisting of 1697 individuals among whom 1083 fulfilled NIH diagnostic criteria for NF1. 11,17,25 The study was approved by the local ethical committee and all participants gave their written informed consents.…”

Section: Patients and Samplesmentioning

confidence: 99%

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

et al. 2014

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Molecular diagnosis of neurofibromatosis type 1 (NF1) is challenging owing to the large size of the tumour suppressor gene NF1, and the lack of mutation hotspots. A somatic alteration of the wild-type NF1 allele is observed in NF1-associated tumours. Genetic heterogeneity in NF1 was confirmed in patients with SPRED1 mutations. Here, we present a targeted next-generation sequencing (NGS) of NF1 and SPRED1 using a multiplex PCR approach (230 amplicons of B150 bp) on a PGM sequencer. The chip capacity allowed mixing 48 bar-coded samples in a 4-day workflow. We validated the NGS approach by retrospectively testing 30 NF1-mutated samples, and then prospectively analysed 279 patients in routine diagnosis. On average, 98.5% of all targeted bases were covered by at least 20X and 96% by at least 100X. An NF1 or SPRED1 alteration was found in 246/279 (88%) and 10/279 (4%) patients, respectively. Genotyping throughput was increased over 10 times, as compared with Sanger, with B90h for consumables per sample. Interestingly, our targeted NGS approach also provided quantitative information based on sequencing depth allowing identification of multiexons deletion or duplication. We then addressed the NF1 somatic mutation detection sensitivity in mosaic NF1 patients and tumours.

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

Cited by 859 publications

References 63 publications

Worries and needs of adults and parents of adults with neurofibromatosis type 1

Worries and needs of adults and parents of adults with neurofibromatosis type 1

Association between atypical parathyroid adenoma and neurofibromatosis

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

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