Selumetinib in the Treatment of Symptomatic Intractable Plexiform Neurofibromas in Neurofibromatosis Type 1: A Prospective Case Series with Emphasis on Side Effects

2020 ◽  
Vol 22 (4) ◽  
pp. 417-423
Author(s):  
Francesco Baldo ◽  
Antonio Giacomo Grasso ◽  
Luisa Cortellazzo Wiel ◽  
Alessandra Maestro ◽  
Marta Paulina Trojniak ◽  
...  
Keyword(s):  
Side Effects ◽  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas ◽  
Prospective Case Series

scholarly journals NFB-14. PSYCHOSOCIAL OUTCOMES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 AND PLEXIFORM NEUROFIBROMAS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii420-iii420
Author(s):  
Sudarshawn Damodharan ◽  
Paige Mission ◽  
Diane Puccetti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Phenotypic Variability ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Attention Problems ◽  
Social Emotional ◽  
Plexiform Neurofibromas ◽  
Peripheral Nerve Sheath Tumors ◽  
Wide Range

Abstract OBJECTIVE This case series seeks to examine neurocognitive outcomes, social-emotional functioning, and family burden in young children diagnosed with Neurofibromatosis, type 1 (NF1) with early growing plexiform neurofibromas (PNFs). BACKGROUND Neurofibromatosis, type 1 (NF1) is a common predisposing chronic disease arising in early childhood, with an incidence of approximately 1:3000. Though NF1 displays a wide range of phenotypic variability, the primary feature of the disease is peripheral nerve sheath tumors called neurofibromas. Less is well known regarding the broader neurocognitive and social-emotional profile in presentations with more complex tumor growths, namely PNFs, which are present in at least half of the NF1-affected population. METHODS Participants with NF1 and PNFs (n=2) aged 6-7years completed comprehensive neuropsychological evaluations and parents completed measures of quality of life, social-emotional/behavioral functioning of child, parental stress, family adaptability, and family cohesion. RESULTS Outcomes suggest broad neurocognitive dysfunction (e.g., executive functioning deficits, attention problems, visual-motor delays, and poor motor coordination), social-emotional challenges (e.g., symptoms of anxiety and depression, and poor social skills), and familial distress. CONCLUSIONS Findings indicate the value of early and frequent monitoring of children with PNFs in medical systems and multi-disciplinary teams, and the importance of early intervention for both children and families.

scholarly journals NCOG-14. PSYCHOSOCIAL OUTCOMES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 AND PLEXIFORM NEUROFIBROMAS

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii132-ii132
Author(s):  
Diane Puccetti ◽  
Paige Mission ◽  
Shawn Damodharan
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Phenotypic Variability ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Attention Problems ◽  
Social Emotional ◽  
Plexiform Neurofibromas ◽  
Peripheral Nerve Sheath Tumors ◽  
Wide Range

Abstract OBJECTIVE This case series seeks to examine neurocognitive outcomes, social-emotional functioning, and family burden in young children diagnosed with Neurofibromatosis, type 1 (NF1) with early growing plexiform neurofibromas (PNFs). BACKGROUND Neurofibromatosis, type 1 (NF1) is a common predisposing chronic disease arising in early childhood, with an incidence of approximately 1:3000. Though NF1 displays a wide range of phenotypic variability, the primary feature of the disease is peripheral nerve sheath tumors called neurofibromas. Less is well known regarding the broader neurocognitive and social-emotional profile in presentations with more complex tumor growths, namely PNFs, which are present in at least half of the NF1-affected population. METHODS Participants with NF1 and PNFs (n=2) aged 6-7years completed comprehensive neuropsychological evaluations and parents completed measures of quality of life, social-emotional/behavioral functioning of child, parental stress, family adaptability, and family cohesion. RESULTS Outcomes suggest broad neurocognitive dysfunction (e.g., executive functioning deficits, attention problems, visual-motor delays, and poor motor coordination), social-emotional challenges (e.g., symptoms of anxiety and depression, and poor social skills), and familial distress. CONCLUSIONS Findings indicate the value of early and frequent monitoring of children with PNFs in medical systems and multi-disciplinary teams, and the importance of early intervention for both children and families.

scholarly journals Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

2016 ◽  
Vol 375 (26) ◽  
pp. 2550-2560 ◽  
Author(s):  
Eva Dombi ◽  
Andrea Baldwin ◽  
Leigh J. Marcus ◽  
Michael J. Fisher ◽  
Brian Weiss ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas

scholarly journals Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report

2020 ◽  
Vol 26 (1) ◽  
pp. 42-46
Author(s):  
Tamer Bayram ◽  
Derya Bayram ◽  
Hülya Tireli
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas

Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings

2018 ◽  
Vol 39 (8) ◽  
pp. 1112-1125 ◽  
Author(s):  
Meritxell Carrió ◽  
Bernat Gel ◽  
Ernest Terribas ◽  
Adriana Carolina Zucchiatti ◽  
Teresa Moliné ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Intratumor Heterogeneity ◽  
Plexiform Neurofibromas ◽  
Atypical Features

scholarly journals Treatment, Resource Use and Costs Among Pediatric Patients with Neurofibromatosis Type 1 and Plexiform Neurofibromas

2020 ◽  
Vol Volume 11 ◽  
pp. 421-428
Author(s):  
Xiaoqin Yang ◽  
Kaushal Desai ◽  
Neha Agrawal ◽  
Kirti Mirchandani ◽  
Sagnik Chatterjee ◽  
...  
Keyword(s):  
Resource Use ◽  
Neurofibromatosis Type 1 ◽  
Pediatric Patients ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas
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