Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome

Pediatr Blood Cancer. 2021 Feb;68(2):e28799. doi: 10.1002/pbc.28799. Epub 2020 Nov 16.

Abstract

Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4-month-old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Whole-exome sequencing identified two somatic mutations, including RUNX1 p.S100F that was previously reported as associated with myeloid malignancies. The molecular defects associated with PS may have the potential to progress to advanced myelodysplastic syndrome .

Keywords: RUNX1; monosomy 7; pearson syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Transfusion
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7 / genetics
  • Congenital Bone Marrow Failure Syndromes / genetics*
  • Congenital Bone Marrow Failure Syndromes / therapy*
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • DNA, Mitochondrial / genetics
  • Exome Sequencing
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipid Metabolism, Inborn Errors / therapy*
  • Male
  • Membrane Proteins / genetics*
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / therapy*
  • Muscular Diseases / genetics*
  • Muscular Diseases / therapy*
  • Nerve Tissue Proteins / genetics*
  • Pancytopenia / genetics
  • Pancytopenia / pathology

Substances

  • Core Binding Factor Alpha 2 Subunit
  • DNA, Mitochondrial
  • LINGO4 protein, human
  • Membrane Proteins
  • Nerve Tissue Proteins
  • RUNX1 protein, human

Supplementary concepts

  • Chromosome 7, monosomy
  • VLCAD deficiency