The clinical response to the MEK inhibitor selumetinib, including regression of subcutaneous nodules, with no significant improvement in cutaneous neurofibroma scores was observed, is described.
Abstract
Neurofibromatosis type 1 is an autosomal dominant disorder caused by loss-of-function mutations in the
NF1
gene, leading to constitutive Ras pathway activation.
NF1
gene mutations exhibit complete penetrance, cause high phenotypic variability, and feature diverse types without established hotspots. This study identified a novel pathogenic variant via whole-exome sequencing in a pediatric case, broadening the spectrum of known
NF1
mutations. We further describe the clinical response to the MEK inhibitor selumetinib, including regression of subcutaneous nodules, with no significant improvement in cutaneous neurofibroma scores was observed.
Targeted therapy in NF1 caused by a unique, previously unreported NF1 gene mutation resulted in a significant tumor size reduction, indicating the effectiveness of this approach in NF1 caused by this pathogenic NF1 variant.
R. Mustafin· Pediatric Hematology/Oncolog...· 0 citations
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder mainly caused by pathogenic variants in
ACVRL1
or
ENG
. We identified a novel heterozygous
ACVRL1
p.Cys95Ser variant in a Japanese family with HHT. The variant co-segregated with clinical features and was associated with im...
Hiroyuki Shimada, Yasuto Sano, Takuma Asahi et al.· Human Genome Variation· 0 citations
By incorporating growth data from childhood, this study construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities in pediatric NF1, and expands the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.
Zhiying Li, Xin Li, Tian-Lian Wen et al.· World Journal of Pediatrics· 0 citations
A cross-sectional study of 847 clinically confirmed Chinese patients with NF1 to characterize demographic features, clinical manifestations, DNB-defined severity, and variant spectrum and expands the known NF1 variant spectrum in this population.
Ya-Xin Guo, Xin-De Liu, Yi-Qiu Yan et al.· Orphanet Journal of Rare Dis...· 0 citations
Children presenting with progressive gait abnormality may suffer from a genetic disorder. NDUFS1-related mitochondrial complex I deficiency is a rare disorder with highly variable phenotypes. Predominant axonal neuropathy without prominent systemic metabolic dysfunction is unusual. Expanding reports of such prese...
R. Sawaya, Amani A. Bannout, Nadine J. Makhoul et al.· BMC Pediatrics· 0 citations
