Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

Blood. 2024 Dec 5;144(23):2402-2416. doi: 10.1182/blood.2024025023.

Abstract

Telomere biology disorders (TBDs), caused by pathogenic germ line variants in telomere-related genes, present with multiorgan disease and a predisposition to cancer. Clonal hematopoiesis (CH) as a marker of cancer development and survival in TBDs is poorly understood. Here, we characterized the clonal landscape of a large cohort of 207 patients with TBD with a broad range of age and phenotype. CH occurred predominantly in symptomatic patients and in signature genes typically associated with cancers: PPM1D, POT1, TERT promoter (TERTp), U2AF1S34, and/or TP53. Chromosome 1q gain (Chr1q+) was the commonest karyotypic abnormality. Clinically, multiorgan involvement and CH in TERTp, TP53, and splicing factor genes were associated with poorer overall survival. Chr1q+ and splicing factor or TP53 mutations significantly increased the risk of hematologic malignancies, regardless of clonal burden. Chr1q+ and U2AF1S34 mutated clones were premalignant events associated with the secondary acquisition of mutations in genes related to hematologic malignancies. Similar to the known effects of Chr1q+ and TP53-CH, functional studies demonstrated that U2AF1S34 mutations primarily compensated for aberrant upregulation of TP53 and interferon pathways in telomere-dysfunctional hematopoietic stem cells, highlighting the TP53 pathway as a canonical route of malignancy in TBD. In contrast, somatic POT1/PPM1D/TERTp mutations had distinct trajectories unrelated to cancer development. With implications beyond TBD, our data show that telomere dysfunction is a strong selective pressure for CH. In TBD, CH is a poor prognostic marker associated with worse overall survival. The identification of key regulatory pathways that drive clonal transformation in TBD allows for the identification of patients at a higher risk of cancer development.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Clonal Hematopoiesis / genetics
  • Female
  • Hematologic Neoplasms / genetics
  • Hematologic Neoplasms / mortality
  • Hematologic Neoplasms / pathology
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasms / genetics
  • Neoplasms / mortality
  • Shelterin Complex
  • Splicing Factor U2AF / genetics
  • Telomerase / genetics
  • Telomere* / genetics
  • Telomere-Binding Proteins / genetics
  • Tumor Suppressor Protein p53 / genetics
  • Young Adult

Substances

  • Telomere-Binding Proteins
  • Shelterin Complex
  • Telomerase
  • Tumor Suppressor Protein p53
  • Splicing Factor U2AF
  • TERT protein, human
  • POT1 protein, human