Aug 2026· Pediatric Hematology/Oncology and Immunopathology· 0 citations· 5 references
TL;DR
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.
Abstract
Neurofibromatosis type 1 (NF1) is a severe monogenic disorder characterized by café-au-lait spots and neoplastic lesions, including plexiform neurofibromas that are treated with targeted therapy using a mitogen-activated protein kinase inhibitor. A sporadic case of NF1 caused by a unique, previously unreported NF1 gene mutation, c.1369_1370insGGGTC(p.H457fs), was identified in a 13-year-old boy. The features of NF1 in the patient included early manifestation of tumor syndrome with simultaneous development of cutaneous neurofibromas, tumors of spinal roots, vagus nerve and plexiform neurofibromas, cognitive and speech impairment, growth retardation, and multiple skeletal abnormalities. At the age of 10, targeted therapy was initiated, resulting in a significant tumor size reduction and thus indicating the effectiveness of this approach in NF1 caused by this pathogenic NF1 variant.
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.
This case underscores the importance of a comprehensive, multidisciplinary approach in the evaluation of mediastinal masses to achieve an accurate diagnosis and highlights the role of genetic testing in facilitating risk stratification and informing preventive strategies aimed at reducing the risk of progression from N...
Yu Qi, Sheng-Hai Wang, Zhao-Kun Sun et al.· Clinical Case Reports· 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
This case highlights the importance of genetic testing in establishing an NF1 diagnosis in young children, and an increasing variant allele fraction may signal an emerging JMML, and early testing can provide a critical time window for timely and effective treatment.
S. Peltonen, Christian Johansson, Marika H. Grönroos et al.· European Journal of Medical...· 0 citations
A 27 year old woman with severe hypertension, acute myeloid leukemia, and chronic graft versus host disease was admitted for acute pyelonephritis, leading to a clinical diagnosis of NF1 based on NIH criteria, highlighting that NF1 can remain undiagnosed for years in patients with complex medical histories.
Ghalia Khellaf, H. Sahel, A. Benziane· International Journal of Adv...· 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
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