08/Jun/2026
Real-world genomic profiling of solid tumors: validation and clinical insights from a Brazilian cohort
DOI: 10.31744/einstein_journal/2026AO2000
Highlights ■ TSO500 showed 93.39% sensitivity and high concordance with FoundationOne. ■ Comprehensive Genomic Profiling of 454 tumors revealed the genomic landscape of 57 cancer types. ■ Variants of uncertain significance comprised 57.9% of all genomic events, highlighting challenges in precision oncology. ■ Gene fusions occurred in 13% of cases, with 45.5% classified as variants of uncertain significance. ABSTRACT Background: Precision medicine has transformed cancer management by tailoring treatments to the molecular characteristics of a patient’s tumor. Comprehensive Genomic Profiling […]
Keywords: Brazilian molecular data; Genomic structural variation; High-throughput nucleotide sequencing; Illumina TruSight Oncology 500; Neoplasms; Precision medicine; Somatic alterations; Tumor molecular profiling
17/Dec/2025
Response to trastuzumab-deruxtecan in metastatic triple-negative breast cancer with both HER2 mutation and low expression
einstein (São Paulo). 17/Dec/2025;24:eRC1689.
View Article17/Dec/2025
Response to trastuzumab-deruxtecan in metastatic triple-negative breast cancer with both HER2 mutation and low expression
DOI: 10.31744/einstein_journal/2026RC1689
Abstract Breast cancer is one of the most prevalent and heterogeneous cancers worldwide; however, it remains a complex and enigmatic disease. Advances in targeted therapies combined with increasing knowledge about tumor subtypes and molecular profiling have placed precision medicine on the frontier of oncological treatments. The recent classification of certain HER2 tumors as HER2-low, along with emerging evidence from studies using antibody-drug conjugates to target specific tumor profiles, highlights the relevance of this case study. This report describes the treatment […]
Keywords: Breast neoplasms; Immunoconjugates; Molecular targeted therapy; Precision medicine; Receptor, ErbB-2; Trastuzumab deruxtecan
