Genetic Disorders and Cancer Susceptibility: Molecular Mechanisms, Risk Assessment, and Targeted Therapies

Dear Colleagues,

Neurofibromatosis type 1 (NF1) predisposes children to optic pathway gliomas (OPGs), which arise in about 15–25% of patients. Although treatments such as MEK inhibitors can reduce tumor size, many children still develop progressive vision loss, showing that controlling tumor growth does not fully prevent neural damage. Because OPGs occur in delicate regions of the visual pathway, biopsy is not indicated, constraining direct study of the tumor microenvironment and the cells that initiate gliomagenesis. Over the past two decades, mouse and in vitro models have provided essential insight into OPG formation. These studies reveal complex interactions among microglia, T cells, astrocytes, and oligodendrocytes, which harbor germline NF1 mutations, and neural or glial progenitors acquire additonal somatic NF1 loss, becoming knockout for NF1. Tumor and stromal cells secrete factors such as IL-1β, CXCL12, CCL5, NLGN3, and midkines that drive tumor expansion and contribute to axonal degeneration. Despite this progress, key questions remain about whether retinal ganglion cell loss is a cell-autonomous consequence of NF1 haploinsufficiency or a secondary effect of axonal injury, as well as the contributions of myelin pathology and the tumor cell of origin. Efforts to standardize visual pathway assessment in OPG mouse models aim to clarify the timing of tumor growth and neurodegeneration. This Special Issue aims to highlight the progress in understanding the cellular and molecular mechanisms involved in NF1-OPG pathology in in vitro and in vivo studies, and how to target the many manifestations involved in this genetic disorder.

Dr. Silmara de Lima
Guest Editor

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