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Figure 4 | BMC Cancer

Figure 4

From: Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

Figure 4

Overview of treatments and PacBio results for patient 3. A) The BCR-ABL1 IS% values measured by routine quantitative RT-PCR are shown in open circles. The sensitivity of this assay was measured for the BGUS reference gene and depicted by gray squares. As indicated by the red cross, the T315I mutation was detected after eleven months of imatinib treatment. The mutation was detected at this time point using our allele specific quantitative PCR used in routine analysis. The samples that were analyzed by PacBio sequencing are indicated by black arrows and their mutation composition showed in the circle plot diagrams. Vertical lines indicate the treatment periods. HU (Hydroxyurea). B) This panel shows the mutational composition in the BCR-ABL1 transcript for the 49 m and 55 m follow-up samples. Horizontal lines gives a schematic representation of high-quality PacBio reads that were used for examining the mutational composition. At 49 m, 91.8% of the reads carried T315I mutation. 4.2% of the reads showed the presence of F359C and 3.9% of the reads contained none of the mutations. At 55 m, two new clones appeared, one containing D276G and T315I (2.0% of the reads) and one containing T315I and H396R (1.1% of the reads).

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