Figure 1.

Dynamics of genetic lesions associated with the transformation of CLL to RS. Histograms representing the number of genetic lesions: (a) shared between the 9 CLL and RS discovery pairs (data based on CN and FISH analyses and sequencing of NOTCH1, TP53, and SF3B1); (b) clonally represented in CLL and absent in the paired RS (data based on CN, FISH and WES analyses); and (c) acquired in the CLL-RS transition (data based on CN, FISH and WES analyses). In three cases (on the right portion of the graph), the terminal leukemic phase of RS (RSII) was included in the analysis (cases 2, 4, and 5). In case 5, the acquired lesions are based on WES and FISH data; none of the discovery cases carried mutations shared between CLL and RS in the ATM and MYD88 genes. Tx, translocation; M, mutation.

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