Preneoplastic Alterations Define CLL DNA Methylome and Persist through Disease Progression and Therapy

Blood Cancer Discov. 2021 Jan;2(1):54-69. doi: 10.1158/2643-3230.BCD-19-0058. Epub 2020 Dec 3.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • CpG Islands / genetics
  • DNA Methylation / genetics
  • Disease Progression
  • Epigenome*
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell* / diagnosis