Exp Dermatol. 2020 Oct 8. doi: 10.1111/exd.14211. Online ahead of print.
The pathogenesis of cutaneous T-cell lymphomas is not clear. In recent years the genetic changes in CTCL were explored. The detected mutations showed a great deal of heterogeneity between individual patients. The studies documented various copy number variations (CNV) and single nucleotide variations (SNV) in multiple genes involved in multiple signaling pathways. Recurrently mutated signaling pathways include JAK-STAT, MAPK, T cell receptor, TNF receptor and NFκB signaling. In the period
between 2018 and today additional studies towards the genetic changes in CTCL were carried out. Genetic changes in gamma delta T cell lymphoma are also shown in genes of the JAK-STAT, MAPK, MYC and chromatin signaling pathways. These studies might indicate a shift away from targeted sequencing approaches towards whole genome sequencing. This approach demands additional resources in terms of funding but has the advantage of finding mutations in non-coding regions. These mutations were neglected for a long time, but as shown in contemporary research these regions harbor highly recurrent mutations affecting gene expression and regulation. Nevertheless, the detection of specific molecular changes in known pathways enables considerations for targeted therapies.