An integrated data resource for genomic analysis of cutaneous T-cell lymphoma

Recently, several groups have conducted sequencing studies of cutaneous T-cell lymphoma (CTCL) in order to identify disease driving mutations. An integrated genomic dataset that combines multiple cohorts may facilitate more comprehensive studies of disease pathways and genomic classification of CTCL, but currently no such resource is available. In this study we compiled and analyzed one such dataset that included matched genomic mutations and copy number alterations of 139 CTCL cases. Using this dataset, we studied mutual exclusivity of mutations in the most frequently mutated pathways and survival curves depending on mutation load and other parameters. We found that mutations in the NFkB pathway genes PLCG1, CARD11 and TNFRSF1B were mutually exclusive. Mutations in the NFkB pathway genes and those in p53 were also mutually exclusive. No significant difference in overall survival was seen between SS cases with or without mutations in p53 or the NFkB pathway genes. There was a difference...