Neurofibromatosis Clinic: A Report on Patient Demographics and Evaluation of the Clinic

Mansouri, Alireza; Ghadakzadeh, Saber; Maqbool, Talha; Barnett, Carolina; Au, Karolyn; Kongkham, Paul; Bril, Vera; Zadeh, Gelareh

doi:10.1017/cjn.2016.326

Cited by 6 publications

(5 citation statements)

References 58 publications

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“…In our study, nonoptic low‐grade glioma was detected in two patients diagnosed with astrocytoma. NF1‐affected patients may also develop other malignant tumors, such as MPNSTs, rhabdomyosarcomas, leukemias, neuroblastomas, and pheochromocytomas (Koczkowska et al., 2019; Mansouri et al., 2017; Patil & Chamberlain, 2012). In our cohort, a patient was histologically diagnosed with retinoblastoma after the enucleation surgery at age 4 months (Table S1).…”

Section: Discussionmentioning

confidence: 99%

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients

Güneş

Yeşil

Geyik

et al. 2021

Annals of Human Genetics

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Objective To investigate the variant spectrum and genotype–phenotype correlations in a Turkish cohort with Neurofibromatosis Type‐1 (NF1). Materials and methods We retrospectively investigated the clinical and molecular data of 138 NF1 patients from 129 families who had been followed‐up for a median of 3.9 (1.25–18.5) years. Results NF1 sequencing revealed 73 different intragenic variants, 19 of which were novel. Seven large deletions were detected by multiplex ligation‐dependent probe amplification (MLPA) analyses. The total detection rate of pathogenic NF1 variants was found to be 87.1%. Comparing age groups, cutaneous neurofibromas, freckling, and Lisch nodules were more prevalent in patients older than 12 years (p > .05). Optic glioma detected in 17.3% of the patients and was significantly more common before the age of 6 (p > .001). Other solid tumors developed in 5% of the patients. There was no genotype–phenotype correlation between patients with truncating and nontruncating variants. However, six out of seven patients with large deletions had significant developmental delay, one patient with the c.2970_2972delAAT (p.Met992del) variant had only typical pigmentary features, and another patient with the c.4267A > G (p.Lys1423Glu) variant had CALMs, freckling, neurofibromas, and Noonan‐like phenotype. Conclusions We described 19 novel variants and seven large deletions in NF1. Applying MLPA assay in NF1 is useful in expanding the molecular diagnosis. Although very limited genotype–phenotype correlation has been reported in NF1, the fact that specific phenotypic findings were observed in our patients with large deletions and two intragenic variants supports the studies published recently.

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Section: Discussionmentioning

confidence: 99%

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients

Güneş

Yeşil

Geyik

et al. 2021

Annals of Human Genetics

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“…Other considerations of NF specialty clinics are their guidance for facilitating transition and continuation of care in adult NF patients. Adult counterpart clinics may provide purposeful follow up while maintaining the same level of expertise and quality of care and therefore represent an equally important institution after transition from pediatrics to adulthood ( 68 ).…”

Section: Discussionmentioning

confidence: 99%

Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1

et al. 2022

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IntroductionNeurofibromatosis type 1 (NF1) has an incidence of 1 in 2,000 to 3,000 individuals and in 15% is associated with optic pathway glioma (OPG). Given the variability in clinical presentation and related morbidity, a multidisciplinary approach for diagnosis and management of children with NF1 and OPG is required, but often lacks coordination and regular information exchange. Herein we summarize our experience and describe the care pathways/network provided by a multidisciplinary team. The role of the distinct team members is elucidated as well as the care amendments made over time.MethodsWe performed a retrospective single-center observational study, including children treated at our institution between 1990 and 2021. Inclusion criteria were clinical diagnosis of NF1, radiographic and/or histopathological diagnosis of OPG and age below 18 years. Patients being treated elsewhere were excluded from the study. Data was abstracted from each child’s health record using a standardized data collection form. Characteristics of children with NF1 and OPG were described using means (SD) and percentages. Outcomes were determined using Kaplan-Meier estimates.ResultsFrom 1990 to 2021, 1,337 children were followed in our institution. Of those, 195 were diagnosed with OPG (14.6%), including 94 (48.21%) females and 101 (51.79%) males. Comprehensive data were available in 150 patients. The mean (SD) age at diagnosis was 5.31(4.08) years (range: 0.8–17.04 years). Sixty-two (41.3%) patients remained stable and did not undergo treatment, whereas 88 (58.7%) patients required at least one treatment. The mean (SD) duration of follow up was 8.14 (5.46) years (range: 0.1–25.9 years; median 6.8 years). Overall survival was of 23.6 years (±1.08), comprising 5 deaths. A dedicated NF clinic, including pediatricians and a nurse, provides regular follow up and plays a central role in the management of children with NF1, identifying those at risk of OPG, coordinating referrals to Neuroradiology and other specialists as indicated. All children are assessed annually by Ophthalmology. Comprehensive care was provided by a multidisciplinary team consisting of Dermatology, Genetics, Neuro-oncology, Neuroradiology, Neurosurgery, Ophthalmology and Pediatrics.ConclusionsThe care of children with NF1 and OPG is optimized with a multidisciplinary team approach, coordinated by a central specialty clinic.

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“…In a recent Australian study, most adult NF1 patients have not undergone regular disease monitoring since the transition from pediatrics to adulthood, and importantly, some adult NF1 patients developed new complications in adulthood, such as spinal-related medical conditions and chronic pain 20 . There was a report of an adult NF1 clinic in Canada, where the average age of patients was 32.6 years 21 . This report states that among adult NF1 patients, only 9% were referred from pediatric centers that were seeing NF1, suggesting the difficulty in transition to adult NF1 care.…”

Section: Discussionmentioning

confidence: 99%

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

Nishida

Ikuta

Natsume

et al. 2021

Sci Rep

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Neurofibromatosis type 1 (NF1) is a genetic multisystem disorder. Clinicians must be aware of the diverse clinical features of this disorder in order to provide optimal care for it. We have set up an NF1 in-hospital medical care network of specialists regardless of patient age, launching a multidisciplinary approach to the disease for the first time in Japan. From January 2014 to December 2020, 246 patients were enrolled in the NF1 patient list and medical records. Mean age was 26.0 years ranging from 3 months to 80 years. The number of patients was higher as age at first visit was lower. There were 107 males (41%) and 139 females. After 2011, the number of patients has increased since the year when the medical care network was started. Regarding orthopedic signs, scoliosis was present in 60 cases (26%), and bone abnormalities in the upper arm, forearm, and tibia in 8 cases (3.5%). Neurofibromas other than cutaneous neurofibromas were present in 90 cases (39%), and MPNST in 17 cases (7.4%). We launched a multidisciplinary NF1 clinic system for the first time in Japan. For patients with NF1, which is a hereditary and systemic disease associated with a high incidence of malignant tumors, it will be of great benefit when the number of such clinics in Japan and the rest of Asia is increased.

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Neurofibromatosis Clinic: A Report on Patient Demographics and Evaluation of the Clinic

Cited by 6 publications

References 58 publications

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients

Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

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