The mutational landscape of paroxysmal nocturnal hemoglobinuria revealed: new insights into clonal dominance

J Clin Invest. 2014 Oct;124(10):4227-30. doi: 10.1172/JCI77984. Epub 2014 Sep 17.

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a disorder of hematopoietic stem cells that has largely been considered a monogenic disorder due to acquisition of mutations in the gene encoding PIGA, which is required for glycosylphosphatidylinositol (GPI) anchor biosynthesis. In this issue of the JCI, Shen et al. discovered that PNH is in fact a complex genetic disorder orchestrated by many genetic alterations in addition to PIGA mutations. Some of these mutations predate the acquisition of PIGA mutations, while others occur later. Surprisingly, this work indicates that PNH has a clonal evolution and architecture strikingly similar to that of other myeloid neoplasms, highlighting a potentially broader mechanism of disease pathogenesis in this disorder.

Publication types

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

MeSH terms

  • Female
  • Hemoglobinuria, Paroxysmal / genetics*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Male
  • Membrane Proteins / genetics*

Substances

  • Membrane Proteins
  • phosphatidylinositol glycan-class A protein