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    2years
    Adenomyoepithelioma of the Breast: Molecular Profile of 6 Cases (CAP 2022)
    Breast adenomyoepitheliomas are rare tumors. They represent a heterogeneous group morphologically, clinically, and genetically. Identification of recurrent genetic alterations may have diagnostic and therapeutic applications.
    Clinical
    |
    ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NRG1 (Neuregulin 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
    |
    PIK3CA mutation • FGFR1 amplification • FGFR2 mutation • FGFR1 mutation • ER negative • HRAS mutation • AKT1 mutation • PIK3R1 mutation • NRG1 amplification
    2years
    Adenomyoepithelioma of the Breast: Molecular Profile of 6 Cases (CAP 2022)
    Breast adenomyoepitheliomas are rare tumors. They represent a heterogeneous group morphologically, clinically, and genetically. Identification of recurrent genetic alterations may have diagnostic and therapeutic applications.
    Clinical
    |
    ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NRG1 (Neuregulin 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
    |
    PIK3CA mutation • FGFR1 amplification • FGFR2 mutation • FGFR1 mutation • ER negative • HRAS mutation • AKT1 mutation • PIK3R1 mutation • NRG1 amplification
    3years
    Comparative Analysis of Clinicopathological Features and Genetic Landscape of Relapsed/ Refractory and Effectively Treated Extranodal Nasal NK/ T Cell Lymphoma (ASH 2021)
    Based on tumor genetics, frequently mutated genes encoding histone methylation and enriched in the GO term of extracellular structure/ matrix organization might play a role in the drug resistance of R/R-ENKTL. Furthermore, the high prevalence of NRG1 amplification and CD274 fusions suggested their potential as therapeutic targets in R/R-ENKTL treatment.
    Clinical • Tumor Mutational Burden • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NRG1 (Neuregulin 1) • TNFRSF8 (TNF Receptor Superfamily Member 8) • KMT2D (Lysine Methyltransferase 2D) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KMT2C (Lysine Methyltransferase 2C)
    |
    PD-L1 expression • LDH elevation • CDKN2A deletion • KMT2D mutation • TNFRSF8 positive • TNFRSF8 expression • NRG1 fusion • PD-L1 amplification • NRG1 amplification