Genomic Profiling of Hepatocellular Adenomas Reveals Recurrent FRK-Activating Mutations and the Mechanisms of Malignant Transformation

Menée à partir de 250 échantillons tumoraux prélevés sur 195 patients atteints d'un adénome hépatocellulaire, cette étude française identifie un ensemble d'anomalies génomiques impliquées dans la transformation maligne

Résumé en anglais

Hepatocellular adenomas (HCA) are benign liver tumors predominantly developed in women using oral contraceptives. Here, exome sequencing identified recurrent somatic FRK mutations that induce constitutive kinase activity, STAT3 activation, and cell proliferation sensitive to Src inhibitors. We also found uncommon recurrent mutations activating JAK1, gp130, or