Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients

J Clin Invest. 2011 Jan;121(1):184-94. doi: 10.1172/JCI43836. Epub 2010 Dec 22.

Abstract

DNA damage checkpoints in the cell cycle may be important barriers against cancer progression in human cells. Fanconi anemia (FA) is an inherited DNA instability disorder that is associated with bone marrow failure and a strong predisposition to cancer. Although FA cells experience constitutive chromosomal breaks, cell cycle arrest at the G2 DNA damage checkpoint, and an excess of cell death, some patients do become clinically stable, and the mechanisms underlying this, other than spontaneous reversion of the disease-causing mutation, are not well understood. Here we have defined a clonal phenotype, termed attenuation, in which FA patients acquire an abrogation of the G2 checkpoint arrest. Attenuated cells expressed lower levels of CHK1 (also known as CHEK1) and p53. The attenuation could be recapitulated by modulating the ATR/CHK1 pathway, and CHK1 inhibition protected FA cells from cell death. FA patients who expressed the attenuated phenotype had mild bone marrow deficiency and reached adulthood, but several of them eventually developed myelodysplasia or leukemia. Better understanding of attenuation might help predict a patient's clinical course and guide choice of treatment. Our results also highlight the importance of evaluating the cellular DNA damage checkpoint and repair pathways in cancer therapies in general.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Bone Marrow / metabolism
  • Bone Marrow / pathology
  • Checkpoint Kinase 1
  • Checkpoint Kinase 2
  • Child
  • Child, Preschool
  • DNA Damage*
  • Fanconi Anemia / complications*
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / metabolism
  • Fanconi Anemia / pathology
  • Female
  • G2 Phase / genetics*
  • Humans
  • Infant
  • Leukemia, Myeloid, Acute / etiology*
  • Leukemia, Myeloid, Acute / genetics
  • Male
  • Matrix Metalloproteinase 1 / genetics
  • Middle Aged
  • Models, Biological
  • Mutation
  • Myelodysplastic Syndromes / etiology
  • Myelodysplastic Syndromes / genetics
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Protein Kinases / genetics
  • Protein Kinases / metabolism
  • Protein Serine-Threonine Kinases / antagonists & inhibitors
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / metabolism
  • RNA, Small Interfering / genetics
  • Tumor Suppressor Protein p53 / metabolism
  • Young Adult

Substances

  • RNA, Small Interfering
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • Protein Kinases
  • Checkpoint Kinase 2
  • CHEK1 protein, human
  • CHEK2 protein, human
  • Checkpoint Kinase 1
  • Protein Serine-Threonine Kinases
  • MMP1 protein, human
  • Matrix Metalloproteinase 1