Whole genome sequencing reveals oncogenic mutations in mycosis fungoides

摘要: The pathogenesis of mycosis fungoides (MF), the most common cutaneous T-cell lymphoma (CTCL), is unknown. Although genetic alterations have been identified, none are considered consistently causative in MF. To identify potential drivers MF, we performed whole-genome sequencing MF tumors and matched normal skin. Targeted ultra-deep samples exome CTCL cell lines were also performed. Multiple mutations identified that affected same pathways, including epigenetic, cell-fate regulation, cytokine signaling, lines. Specifically, interleukin-2 signaling pathway mutations, activating Janus kinase 3 (JAK3) detected. Treatment with a JAK3 inhibitor significantly reduced survival. Additionally, mutation data 2 other contributing factors to ultraviolet light, polymorphism tumor suppressor p53 (TP53). Therefore, specific pathways may be viable, effective new targets for treatment.