Background: Alveolar rhabdomyosarcoma (ARMS) primarily affects children in the first decade of life, but it can also occur during adolescence, typically with a more favorable prognosis. This study aimed to explore differences in DNA methylation (DNAm) and gene expression profiles that may account for the worse prognosis in younger patients; and to investigate possible new therapeutic targets.
Methods: We conducted whole-genome DNAm and transcriptome analyses on 10 parameningeal head and neck ARMS patients, including 4 patients under 1 year old and 6 over 10 years old.
Acta Neuropathol Commun
March 2025
Pineoblastoma is a rare and aggressive malignancy that often affects pediatric populations. Accurate diagnosis is challenging due to histological overlap with other central nervous system tumors and limited molecular data. DNA methylation profiling and analysis of circulating tumor DNA (derived from both cell dissemination as well as cell-free- cfDNA) in cerebrospinal fluid (CSF) are emerging tools for precise tumor classification, in the field of pediatric central nervous system tumors.
View Article and Find Full Text PDFBackground: Breast cancer represents one of the leading causes of death among women. Surgery can be effective, but once breast cancer has metastasized, it becomes extremely difficult to treat. Conventional therapies are associated with substantial toxicity and poor efficacy due to tumor heterogeneity, treatment resistance and disease relapse.
View Article and Find Full Text PDFIn vitro models of pediatric brain tumors (pBT) are instrumental for better understanding the mechanisms contributing to oncogenesis and testing new therapies; thus, ideally, they should recapitulate the original tumor. We applied DNA methylation (DNAm) and copy number variation (CNV) profiling to characterize 241 pBT samples, including 155 tumors and 86 pBT-derived cell cultures, considering serum vs serum-free conditions, late vs early passages, and dimensionality (2D vs 3D cultures). We performed a t-SNE classification and identified differentially methylated regions in tumors compared to cell models.
View Article and Find Full Text PDFDevelopment of the cerebellum is characterized by rapid proliferation of cerebellar granule cell precursors (GCPs) induced by paracrine stimulation of Sonic hedgehog (Shh) signaling from Purkinje cells, in the external granular layer (EGL). Then, granule cell precursors differentiate and migrate into the inner granular layer (IGL) of the cerebellum to form a terminally differentiated cell compartment. Aberrant activation of Sonic hedgehog signaling leads to granule cell precursors hyperproliferation and the onset of Sonic hedgehog medulloblastoma (MB), the most common embryonal brain tumor.
View Article and Find Full Text PDFPrimary malignant brain tumors are the most common solid neoplasm in childhood. Despite recent advances, many children affected by aggressive or metastatic brain tumors still present poor prognosis, therefore the development of more effective therapies is urgent. Cancer stem cells (CSCs) have been discovered and isolated in both pediatric and adult patients with brain tumors (e.
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