Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts

Blood. 2011 Nov 17;118(20):5583-92. doi: 10.1182/blood-2011-03-343467. Epub 2011 Sep 23.


Mesenchymal stromal cells (MSCs) are an essential cell type of the hematopoietic microenvironment. Concerns have been raised about the possibility that MSCs undergo malignant transformation. Several studies, including one from our own group, have shown the presence of cytogenetic abnormalities in MSCs from leukemia patients. The aim of the present study was to compare genetic aberrations in hematopoietic cells (HCs) and MSCs of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) patients. Cytogenetic aberrations were detected in HCs from 25 of 51 AML patients (49%) and 16 of 43 MDS patients (37%). Mutations of the FLT3 and NPM1 genes were detected in leukemic blasts in 12 (23%) and 8 (16%) AML patients, respectively. Chromosomal aberrations in MSCs were detected in 15 of 94 MDS/AML patients (16%). No chromosomal abnormalities were identified in MSCs of 36 healthy subjects. We demonstrate herein that MSCs have distinct genetic abnormalities compared with leukemic blasts. We also analyzed the main characteristics of patients with MSCs carrying chromosomal aberrations. In view of these data, the genetic alterations in MSCs may constitute a particular mechanism of leukemogenesis.

MeSH terms

  • Abnormal Karyotype
  • Adult
  • Aged
  • Aged, 80 and over
  • Cell Transformation, Neoplastic / genetics
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 19
  • Female
  • Hematopoietic Stem Cells / pathology
  • Hematopoietic Stem Cells / physiology
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / mortality
  • Leukemia, Myeloid, Acute / pathology*
  • Male
  • Mesenchymal Stem Cells / pathology*
  • Mesenchymal Stem Cells / physiology
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / mortality
  • Myelodysplastic Syndromes / pathology*
  • Nuclear Proteins / genetics
  • Nucleophosmin
  • Young Adult
  • fms-Like Tyrosine Kinase 3 / genetics


  • NPM1 protein, human
  • Nuclear Proteins
  • Nucleophosmin
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3