Figure 1.
Summary of targeted-capture sequencing in 797 patients. (A) Frequency distribution of 81 genetic abnormalities, including 48 mutations and 32 abnormal chromosomal segments, which are designated along the bottom. Abnormal chromosomal segments are indicated in brown. Type of mutation and chromosomal lesions are also indicated. (B) A representative copy-number profile obtained from sequencing-based analysis, showing multiple alterations in chromosomal copy numbers, conforming to conventional cytogenetics. (C) Summary of major chromosomal copy-number abnormalities in 295 patients with mutated TP53, CK, and high-risk copy-number lesions (≥3 abnormalities or chromosome 7 abnormality, according to IPSS scoring system) as detected by either conventional cytogenetics and/or sequencing-based copy-number profiling. TP53-mutated tumor cell fractions are depicted in color gradient. (D) Correlation between mutations and copy-number abnormalities found in >3% in the entire cohort. Correlation coefficients and associated q values are indicated by the size of circles and color gradient. (E) Diagonal plots from various combinations of TCFs carrying TP53 mutations, del(5q), 17pLOH, and −7/del(7q), detected by sequencing-based copy-number profiling.