MYCN

This study evaluates the efficacy of qPCR for HER2 status assessment in invasive ductal carcinoma of the breast, comparing it with IHC and FISH. Results demonstrate high concordance between qPCR and FISH, particularly in resolving equivocal IHC 2+ cases. Furthermore, exploratory genomic profiling via WES on high-risk subtypes (HER2 3+ and TNBC) revealed somatic mutations in key genes such as TP53, BRCA1, and MYCN, as well as AR expression in TNBC. These findings highlight qPCR's potential as an accurate diagnostic tool and provide a foundation for future precision oncology strategies.

This international study aimed to identify genetic prognostic biomarkers in a specific subgroup of intermediate-risk neuroblastoma patients, over 18 months old, without MYCN amplification, with localized unresectable or stage 3 tumors, and unfavorable histology, who experience poorer outcomes. Researchers analyzed chromosomal copy number alterations, next-generation DNA sequencing, telomere maintenance mechanisms, and gene expression. The findings revealed that oncogene amplifications, p53 pathway alterations, and typical segmental chromosomal aberrations (tSCAs) are independent prognostic markers associated with significantly reduced event-free and overall survival. These discoveries suggest that these patients might benefit from intensified or alternative treatments.

This retrospective study investigated the incidence of MYCN amplification in unilateral retinoblastoma and its association with RB1 inactivation and clinical features. Out of 139 analyzed cases, 7.2% exhibited MYCN amplification, and all these cases also showed RB1 inactivation. Researchers found that MYCN amplification was significantly associated with more advanced disease and aggressive histopathological features, including secondary glaucoma and massive choroidal or scleral invasion. These findings suggest that MYCN amplification could identify a more aggressive subgroup of retinoblastomas.