ENDOCRINE TUMOURS: The genomics of adrenocortical tumors

摘要: The last decade witnessed the emergence of genomics, a set high-throughput molecular measurements in biological samples. These pan-genomic and agnostic approaches have revolutionized biology genetics malignant benign tumors. techniques been applied successfully to adrenocortical Exome sequencing identified new major drivers all tumor types, including KCNJ5, ATP1A1, ATP2B3 CACNA1D mutations aldosterone-producing adenomas (APA), PRKACA cortisol-producing (CPA), ARMC5 primary bilateral macronodular hyperplasia (PBMAH) ZNRF3 carcinomas (ACC). Moreover, various genomic - exome sequencing, transcriptome, miRNome, genome methylome converge into single classification Especially for ACC, two main groups emerged, showing differences outcomes. ACC differ by their gene expression profiles, but also recurrent specific DNA hypermethylation patterns subgroup poor outcome. clinical impact these findings is just starting. altered signaling pathways now become therapeutic targets. diseases individualize robust subtypes within such as APA, CPA, PBMAH ACC. A revised nosology tumors should research. Obvious consequences include genetic counseling PBMAH, better prognostication based on targeted few discriminant alterations. Identifying extensively gathering variations significant step forward towards precision medicine.