Figure 1.
Figure 1. Genomic alterations in cHCL and vHCL. (A) Histogram of mutations in cHCL cohort (n = 53 patients) present in ≥2 patients. (B) CN analysis of the cHCL cases. Curated segmentation data for 53 cHCL samples. In the red-blue scale, white corresponds to a normal (diploid) CN log ratio, blue is a deletion, and red is a gain. (C) CN variation plots of peripheral blood MNCs from a single patient with cHCL at initiation, remission, and relapse from BRAF inhibitor treatment illustrating deletion of 7q and 13q [del(7q) and del(13q), respectively] regions at times of treatment initiation and relapse but not in disease remission. Genes mapped in the region of del(7q) with representative fluorescence in situ hybridization (FISH) with 7q deletion (white arrows; probes: red = 7q31; green = centromeric probe chromosome 7 [CEP7]) (D) and del(13q) with representative FISH with 13q14 deletion (white arrows; probes: red = 13q14; green = 13q34) (E). (F) BRAFV600E variant allele frequency (VAF) in patient cases with or without del(7q). (G) CN analysis of 8 cases of vHCL.

Genomic alterations in cHCL and vHCL. (A) Histogram of mutations in cHCL cohort (n = 53 patients) present in ≥2 patients. (B) CN analysis of the cHCL cases. Curated segmentation data for 53 cHCL samples. In the red-blue scale, white corresponds to a normal (diploid) CN log ratio, blue is a deletion, and red is a gain. (C) CN variation plots of peripheral blood MNCs from a single patient with cHCL at initiation, remission, and relapse from BRAF inhibitor treatment illustrating deletion of 7q and 13q [del(7q) and del(13q), respectively] regions at times of treatment initiation and relapse but not in disease remission. Genes mapped in the region of del(7q) with representative fluorescence in situ hybridization (FISH) with 7q deletion (white arrows; probes: red = 7q31; green = centromeric probe chromosome 7 [CEP7]) (D) and del(13q) with representative FISH with 13q14 deletion (white arrows; probes: red = 13q14; green = 13q34) (E). (F) BRAFV600E variant allele frequency (VAF) in patient cases with or without del(7q). (G) CN analysis of 8 cases of vHCL.

Close Modal

or Create an Account

Close Modal
Close Modal