Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Nat Commun. 2021 Feb 26;12(1):1334. doi: 10.1038/s41467-021-21588-4.

Abstract

To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. To define the mechanistic basis of clonal hematopoiesis in SDS, we investigate somatic mutations acquired by patients with SDS followed longitudinally. Here we report that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutations in EIF6 or TP53. We show that germline SBDS deficiency establishes a fitness constraint that drives selection of somatic clones via two distinct mechanisms with different clinical consequences. EIF6 inactivation mediates a compensatory pathway with limited leukemic potential by ameliorating the underlying SDS ribosome defect and enhancing clone fitness. TP53 mutations define a maladaptive pathway with enhanced leukemic potential by inactivating tumor suppressor checkpoints without correcting the ribosome defect. Subsequent development of leukemia was associated with acquisition of biallelic TP53 alterations. These results mechanistically link leukemia predisposition to germline genetic constraints on cellular fitness, and provide a rational framework for clinical surveillance strategies.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Bone Marrow Diseases / genetics
  • Bone Marrow Diseases / metabolism
  • Child
  • Child, Preschool
  • Clonal Hematopoiesis / genetics*
  • Clonal Hematopoiesis / physiology*
  • Eukaryotic Initiation Factors / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mutation
  • Ribosomes / genetics
  • Shwachman-Diamond Syndrome / genetics*
  • Shwachman-Diamond Syndrome / metabolism*
  • Tumor Suppressor Protein p53 / genetics
  • Young Adult

Substances

  • EIF6 protein, human
  • Eukaryotic Initiation Factors
  • TP53 protein, human
  • Tumor Suppressor Protein p53