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Molecular characterization of hepatic epithelioid hemangioendothelioma reveals alterations in various genes involved in DNA repair, epigenetic regulation, signaling pathways, and cell cycle control

Genes, Chromosomes and Cancer Sep 11, 2019

Mogler C, Koschny R, Heilig CE, et al. - Researchers sought to perform molecular characterization of hepatic epithelioid hemangioendotheliomas (EHE) in order to recognize new molecular targets. Using a 409-gene panel, they analyzed 8 primary hepatic EHE by next-generation sequencing. A low number of mutations were evident in the majority of primary hepatic EHE. The mutation was primarily observed in genes that are involved in DNA repair, epigenetic regulation, signaling pathways, and cell cycle control, showing that EHE presents with mutations in various functions. Although only a low mutation rate was identified, there appeared mutations in five genes with putative therapeutical options following a comparison with comprehensive databases (target db V3). Therefore, these findings may assist in determining the molecular background of EHE and might pave the way to new therapeutic approaches.
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