Somatic mutations and the hierarchy of hematopoiesis

Arne Traulsen, Jorge M. Pacheco, Lucio Luzzatto, David Dingli

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Clonal disease is often regarded as almost synonymous with cancer. However, it is becoming increasingly clear that our bodies harbor numerous mutant clones that are not tumors, and mostly give rise to no disease at all. Here we discuss three somatic mutations arising within the hematopoietic system: BCR-ABL, characteristic of chronic myeloid leukemia; mutations of the PIG-A gene, characteristic of paroxysmal nocturnal hemoglobinuria; the V617F mutation in the JAK2 gene, characteristic of myeloproliferative diseases. The population frequencies of these three blood disorders fit well with a hierarchical model of hematopoiesis. The fate of any mutant clone will depend on the target cell and on the fitness advantage, if any, that the mutation confers on the cell. In general, we can expect that only a mutation in a hematopoietic stem cell will give long-term disease; the same mutation taking place in a cell located more downstream may produce just a ripple in the hematopoietic ocean.

Original languageEnglish (US)
Pages (from-to)1003-1008
Number of pages6
Issue number11
StatePublished - Nov 2010


  • Clonal evolution
  • Hematopoietic stem cells
  • Mutations
  • Progenitor cells
  • Stochastic dynamics

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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