Whole exome sequencing of HNSCC PDX with KMT2D-inactivating mutation
Histone H3 lysine (H3K4) methyltransferase KMT2D is a key regulator of gene expression, mainly through promoting H3K4 methylation and activating enhancers, and plays critical roles in development, differentiation, metabolism, and tumor suppression. Our study found that KMT2D-deficient HNSCC is sensitive to 2-DG plus DNA damage agents or 2-DG plus PAPR inhibitors in HNSCC mouse models and human cell lines. To further investigate the therapeutic potential of these treatments, we aimed to use patient-derived xenograft (PDX) with MT2D-inactivating utations. We sequenced one PDX from the University of Colorado School of Medicine by whole exome sequencing which has the nonsense mutation of KMT2D. Overall design: High-quality genomic DNA was extracted from PDX and whole exome sequencing was performed.