Puberty and Plexiform Neurofibroma Tumor Growth in Patients with Neurofibromatosis Type I

Dagalakis, Urania; Lodish, Maya; Dombi, Eva; Sinaii, Ninet; Sabo, Jessica; Baldwin, Andrea; Steinberg, Seth M.; Stratakis, Constantine A.; Widemann, Brigitte C.

doi:10.1016/j.jpeds.2013.10.081

Cited by 29 publications

(11 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Dagalakis et al 28 evaluated the relationship between pubertal progression and change in PN burden over time in pediatric and young adult patients with NF1 and PN in a retrospective study using data from the National Cancer Institute NF1 Natural History Study. Patients were divided into two groups, based on whether they were actively progressing through puberty (n = 16) or were peripubertal (n = 25) and followed for an average of 20 months.…”

Section: Resultsmentioning

confidence: 99%

Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review

Copley-Merriman¹,

Yang²,

Juniper³

et al. 2021

AHMT

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1) is an incurable genetic condition that frequently includes the development of plexiform neurofibromas (PNs) in patients. A systematic literature review was conducted to identify data on the natural history, disease burden, and treatment patterns among patients diagnosed with NF1 and PN, as well as to identify evidence gaps in these areas. MEDLINE and MEDLINE In-Process, Embase, and Cochrane Library Searches were searched using predefined terms. Potential references underwent two phases of screening by two independent researchers. A total of 39 references focusing on populations of patients with both NF1 and PN were included in this review. The wide range of PN-related complications creates a substantial quality-of-life (QOL) burden for patients, including pain, social functioning, physical function impact, stigma, and emotional distress. The severe burden of NF1 with PN on the QOL of patients demonstrates the high unmet need for an effective treatment option that can reduce tumor burden and improve QOL. The heterogeneity of measurement tools used to evaluate QOL and the gap in data evaluating the health economic burden of PN should be the focus of future research.

show abstract

Section: Resultsmentioning

confidence: 99%

Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review

Copley-Merriman¹,

Yang²,

Juniper³

et al. 2021

AHMT

View full text Add to dashboard Cite

show abstract

“…51 In adults PNs typically grow minimally. While PN growth rates vary between patients, PN growth was relatively constant over prolonged time periods within patients.…”

Section: Introductionmentioning

confidence: 99%

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1

et al. 2017

Self Cite

View full text Add to dashboard Cite

Children and adults with Neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of ophthalmologic conditions. Plexiform neurofibromas involving the eyelid, orbit, periorbital and facial structures (termed OPPN) can result in significant visual loss in children. Equally important, OPPNs can cause significant alteration in physical appearance secondary to proptosis, ptosis, and facial disfigurement, leading to social embarrassment and decreased self-esteem. Despite NF1 being a relatively common disease in which routine ophthalmologic examinations are required, no formal recommendations for clinical care of children with OPPNs exist. While medical and surgical interventions have been reported, there are no agreed upon criteria for when OPPN require therapy and which treatment produces the best outcome. Since a multi-disciplinary team of specialists (oculofacial plastics, pediatric ophthalmology, neuro-ophthalmology, medical genetics and neuro-oncology) direct management decisions, the absence of a uniform outcome measure that represents visual and or aesthetic sequelae complicates the design of evidence based studies and feasible clinical trials. In September 2013, a multi-disciplinary task force, composed of pediatric practitioners from tertiary care centers experienced in caring for children with OPPN, was convened to address the lack of clinical care guidelines for children with OPPN. This consensus statement provides recommendations for ophthalmologic monitoring and outlines treatment indications, forthcoming biologic therapy, while also discussing challenges to performing clinical trials in this complicated condition.

show abstract

“…First, it includes race data that are not available in other Marketscan® databases. In comparison to previously published observational studies in the United States, which drew from sources such as the National NF Registry/Lurie Children's Hospital in Chicago (27,28), the National Cancer Institute's natural history cohort (23,29), and the Cincinnati Children's Hospital (30), our study population had a lower proportion of White patients and a higher proportion of Black patients. Thus, our results provide insight into a different cross-section of NF1 patients than might be seen with other data sources.…”

Section: Discussionmentioning

confidence: 98%

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

Yang

Desai

Agrawal³

et al. 2020

Preprint

View full text Add to dashboard Cite

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.

show abstract

Puberty and Plexiform Neurofibroma Tumor Growth in Patients with Neurofibromatosis Type I

Cited by 29 publications

References 15 publications

Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review

Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1

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

Contact Info

Product

Resources

About