Figure 3.
Integrated genetic profiles of the 195 HM patients with epidemiologic characteristics grouped by different HM diagnoses. A total of 176 patients with presumed germline (gl DDX41) 116 CV and 60 VUS are grouped (CV in red and VUS in blue, respectively), along with the associated somatic DDX41 (s DDX41), concomitant somatic variants, and cytogenetics. In addition, 19 patients with HM with somatic DDX41 variants in the absence of germline variants are appended to the right of the variant table, 13 CV in red and 6 VUS in blue. Each column represents 1 patient. The concomitant variants are grouped into 6 categories based on gene function: epigenetic, epigenetic regulators, genes involving DNA methylation or histone acetylation, and deacetylation (light green); SFs, RNA splicing factors (purple); TFs, transcription factors (orange); signaling, molecules in tyrosine kinase pathway or RAS/MAPK pathways (pink); C, cohesins (light blue); and others (dark blue), genes with function beyond the above categories. Each bar represents 1 variant, and split bars indicate 2 or more variants in the same gene. A&B, AML and breast cancer; CLL & B, chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and breast cancer; complex, complex karyotype; DLBCL, diffuse large B-cell lymphoma; gl DDX41, germline DDX41 variants; LPL, lymphoplasmacytic lymphoma (MYD88 negative); LR, low risk; MBL, monoclonal B-cell lymphocytosis; MM, multiple myeloma; NI, no information; NL, normal; NM, no mutation; RCA, recurrent cytogenetic abnormalities in AML; s DDX41, somatic DDX41 variants.

Integrated genetic profiles of the 195 HM patients with epidemiologic characteristics grouped by different HM diagnoses. A total of 176 patients with presumed germline (gl DDX41) 116 CV and 60 VUS are grouped (CV in red and VUS in blue, respectively), along with the associated somatic DDX41 (s DDX41), concomitant somatic variants, and cytogenetics. In addition, 19 patients with HM with somatic DDX41 variants in the absence of germline variants are appended to the right of the variant table, 13 CV in red and 6 VUS in blue. Each column represents 1 patient. The concomitant variants are grouped into 6 categories based on gene function: epigenetic, epigenetic regulators, genes involving DNA methylation or histone acetylation, and deacetylation (light green); SFs, RNA splicing factors (purple); TFs, transcription factors (orange); signaling, molecules in tyrosine kinase pathway or RAS/MAPK pathways (pink); C, cohesins (light blue); and others (dark blue), genes with function beyond the above categories. Each bar represents 1 variant, and split bars indicate 2 or more variants in the same gene. A&B, AML and breast cancer; CLL & B, chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and breast cancer; complex, complex karyotype; DLBCL, diffuse large B-cell lymphoma; gl DDX41, germline DDX41 variants; LPL, lymphoplasmacytic lymphoma (MYD88 negative); LR, low risk; MBL, monoclonal B-cell lymphocytosis; MM, multiple myeloma; NI, no information; NL, normal; NM, no mutation; RCA, recurrent cytogenetic abnormalities in AML; s DDX41, somatic DDX41 variants.

Close Modal

or Create an Account

Close Modal
Close Modal