- Kretzmer, Helene;
- Biran, Anat;
- Purroy, Noelia;
- Lemvigh, Camilla K;
- Clement, Kendell;
- Gruber, Michaela;
- Gu, Hongcang;
- Rassenti, Laura;
- Mohammad, Arman W;
- Lesnick, Connie;
- Slager, Susan L;
- Braggio, Esteban;
- Shanafelt, Tait D;
- Kay, Neil E;
- Fernandes, Stacey M;
- Brown, Jennifer R;
- Wang, Lili;
- Li, Shuqiang;
- Livak, Kenneth J;
- Neuberg, Donna S;
- Klages, Sven;
- Timmermann, Bernd;
- Kipps, Thomas J;
- Campo, Elias;
- Gnirke, Andreas;
- Wu, Catherine J;
- Meissner, Alexander
Most human cancers converge to a deregulated methylome with reduced global levels and elevated methylation at select CpG islands. To investigate the emergence and dynamics of the cancer methylome, we characterized genome-wide DNA methylation in pre-neoplastic monoclonal B cell lymphocytosis (MBL) and chronic lymphocytic leukemia (CLL), including serial samples collected across disease course. We detected the aberrant tumor-associated methylation landscape at CLL diagnosis and found no significantly differentially methylated regions in the high-count MBL-to-CLL transition. Patient methylomes showed remarkable stability with natural disease and post-therapy progression. Single CLL cells were consistently aberrantly methylated, indicating a homogeneous transition to the altered epigenetic state, and a distinct expression profile together with MBL cells compared to normal B cells. Our longitudinal analysis reveals the cancer methylome to emerge early, which may provide a platform for subsequent genetically-driven growth dynamics and together with its persistent presence suggests a central role in the normal-to-cancer transition.