biostudies-literaturePark JNIDCD NIH HHSNCI NIH HHS1430-1440https://www.ebi.ac.uk/biostudies/studies/S-EPMC5609333biostudies-literatureUnknown130(12)Cutaneous T-cell lymphoma (CTCL) is an incurable non-Hodgkin lymphoma of the skin-homing T cell. In early-stage disease, lesions are limited to the skin, but in later-stage disease, the tumor cells can escape into the blood, the lymph nodes, and at times the visceral organs. To clarify the genomic basis of CTCL, we performed genomic analysis of 220 CTCLs. Our analyses identify 55 putative driver genes, including 17 genes not previously implicated in CTCL. These novel mutations are predicted to affect chromatin (<i>BCOR</i>, <i>KDM6A</i>, <i>SMARCB1</i>, <i>TRRAP</i>), immune surveillance (<i>CD58</i>, <i>RFXAP</i>), MAPK signaling (<i>MAP2K1</i>, <i>NF1</i>), NF-κB signaling (<i>PRKCB</i>, <i>CSNK1A1</i>), PI-3-kinase signaling (<i>PIK3R1</i>, <i>VAV1</i>), RHOA/cytoskeleton remodeling (<iBloodGenomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E).PMC5609333R00 CA175293R00 DC013805R01 CA203721K08 CA191019Yang JPark JGuitart JWenzel ATLee WJKim JChoi JSavas JNBoggon TJPro BMendillo MLRamachandran AAmankulor NDaniels JCMartinez-Escala EfalseGenomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E).Cutaneous T-cell lymphoma (CTCL) is an incurable non-Hodgkin lymphoma of the skin-homing T cell. In early-stage disease, lesions are limited to the skin, but in later-stage disease, the tumor cells can escape into the blood, the lymph nodes, and at times the visceral organs. To clarify the genomic basis of CTCL, we performed genomic analysis of 220 CTCLs. Our analyses identify 55 putative driver genes, including 17 genes not previously implicated in CTCL. These novel mutations are predicted to affect chromatin (<i>BCOR</i>, <i>KDM6A</i>, <i>SMARCB1</i>, <i>TRRAP</i>), immune surveillance (<i>CD58</i>, <i>RFXAP</i>), MAPK signaling (<i>MAP2K1</i>, <i>NF1</i>), NF-κB signaling (<i>PRKCB</i>, <i>CSNK1A1</i>), PI-3-kinase signaling (<i>PIK3R1</i>, <i>VAV1</i>), RHOA/cytoskeleton remodeling (<i2017-01-01T00:00:00Z2017 Sep2026-05-03T20:18:06.125Z2019-03-26T23:56:27ZS-EPMC56093332869432610.1182/blood-2017-02-768234