A 63-year-old woman with recurrent metastatic Adenoid Cystic Carcinoma (ACC) underwent integrated DNA and RNA molecular profiling after disease progression to better understand the tumour’s biology beyond conventional genomic testing. While DNA analysis identified clinically relevant alterations including TP53 mutation, CDKN2A/CDKN2B deletion, and MTAP deletion, RNA profiling revealed the hallmark MYB–NFIB fusion along with transcriptomic overexpression of multiple biologically relevant genes, providing a more comprehensive molecular portrait of the tumour. This case demonstrates how integrating DNA and RNA profiling can uncover complementary molecular insights that may refine diagnosis, support therapeutic and clinical trial considerations, and enhance clinical decision-making in rare and recurrent cancers. Download the full case study to explore the complete molecular findings and understand how integrated profiling provides a deeper view of tumour biology.
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