scholarly journals Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1

2016 ◽  
Vol 9 (3) ◽  
pp. 568-573 ◽  
Author(s):  
Anastasie M. Dunn-Pirio ◽  
Elizabeth Howell ◽  
Roger E. McLendon ◽  
Katherine B. Peters
Keyword(s):  
Spinal Cord ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorders ◽  
Spinal Cord Tumor ◽  
Single Agent ◽  
Neurofibromatosis Type ◽  
Pilomyxoid Astrocytoma ◽  
Nf1 Gene

Introduction: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. Methods: We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with neurofibromatosis type 1. Diagnosis of neurofibromatosis type 1 was made clinically and confirmed with genetic testing that revealed a heterozygous one-amino-acid deletion (c.2970–2972 delAAT) in exon 17 of the NF1 gene, which is correlated with a milder phenotype. The patient underwent a partial surgical resection of the spinal cord tumor followed by adjuvant carboplatin 560 mg/m2 every 4 weeks. Radiation was avoided due to risks associated with neurofibromatosis type 1. Results: At the 11-month follow-up, the patient maintained a partial radiographic response as well as complete resolution of her neurologic deficits. Conclusion: To our knowledge, this is the first reported case of an adult patient with neurofibromatosis type 1 and a spinal cord PMA. Single-agent carboplatin was effective and well-tolerated.

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
C. Ejerskov ◽  
M. Raundahl ◽  
P. A. Gregersen ◽  
M. M. Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1993 ◽  
Vol 92 (4) ◽  
pp. 429-430 ◽  
Author(s):  
Conxi L�zaro ◽  
Antonia Gaona ◽  
Ganfeng Xu ◽  
Robert Weiss ◽  
Xavier Estivill
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Repeat Polymorphism ◽  
Nf1 Gene

Follow-Up of Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

1994 ◽  
Vol 25 (06) ◽  
pp. 295-300 ◽  
Author(s):  
Ch. Kuenzle ◽  
M. Weissert ◽  
E. Roulet ◽  
H. Bode ◽  
S. Schefer ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway ◽  
Optic Pathway Gliomas

scholarly journals Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

2021 ◽  
Author(s):  
Nahla Abdel‐Aziz ◽  
Ghada El‐Kamah ◽  
Rabab Khairat ◽  
Hanan Mohamed ◽  
Yehia Gad ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Mutational Spectrum ◽  
Nf1 Gene

A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

1994 ◽  
Vol 94 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Sven Hoffmeyer ◽  
Günter Assum ◽  
Dieter Kaufmann ◽  
Kirsten Schwenk ◽  
Winfrid Krone
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

scholarly journals Characteristics, Treatment Patterns, Healthcare Resource Use, and Costs among Pediatric Patients Diagnosed with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Retrospective Database Analysis of a Medicaid Population

2020 ◽  
Author(s):  
Xiaoqin Yang ◽  
Kaushal Desai ◽  
Neha Agrawal ◽  
Kirti Mirchandani ◽  
Sagnik Chatterjee ◽  
...  
Keyword(s):  
Resource Use ◽  
Neurofibromatosis Type 1 ◽  
Pediatric Patients ◽  
Healthcare Resource ◽  
Neurofibromatosis Type ◽  
Treatment Patterns ◽  
Healthcare Resource Use ◽  
The Mean

Abstract Background: Neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN) can cause substantial morbidity by disfigurement and compression of vital structures. Real-world data on the burden and cost of disease among pediatric patients with NF1 and PN is limited. The objectives of this study were to describe the characteristics, treatment patterns, healthcare resource use (HCRU), and costs of these patients.Results: A total of 383 patients were included in the retrospective analysis of patients aged ≤18 with at least 1 ICD-10-CM diagnosis code for both NF1 and PN enrolled in the MarketScan® Multistate Medicaid database from October 1, 2014 to December 31, 2017. The mean follow-up was 448 days. The mean age was 11.4 years and 52.0% of patients were male. Most patients were diagnosed by a specialist (63.5%). During the follow-up period, pain medications were used by 58.5% of patients, 25.1% were treated with chemotherapy, 7.1% received surgery for PN, 1.6% received MEK inhibitors, and 0.8% received radiation. Mean per patient per year inpatient, outpatient, emergency room, pharmacy, and other visits were 1.4, 17.3, 1.6, 13.6, and 25.8, respectively. Mean ±SD (median) total per patient per year healthcare costs (2018 USD) were $17,275 ±$61,903 ($2,889), with total medical costs of $14,628 ±$56,203 ($2,334) and pharmacy costs of $2,646 ±$13,303 ($26). Inpatient costs were the largest drivers of medical cost, with a mean per patient per year cost of $6,739.Conclusions: This study showed that many pediatric patients diagnosed with NF1 and PN were treated with supportive care only, highlighting a substantial unmet medical need. This study also highlights the considerable economic burden among patients with NF1 and PN.

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Author(s):  
Cecilie Ejerskov ◽  
Maj Raundahl ◽  
Pernille Axel Gregersen ◽  
Mette Møller Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract BackgroundThe mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications.MethodA systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed.ResultsWe identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. ConclusionPatients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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