Genomic analysis of clonal eosinophils by CGH arrays reveals new genetic regions involved in chronic eosinophilia

Eur J Haematol. 2014 Nov;93(5):422-8. doi: 10.1111/ejh.12379. Epub 2014 Jun 26.

Abstract

To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 38 patients with chronic eosinophilia were studied by array comparative genomic hybridization (aCGH): seven had chronic myelogenous leukaemia (CML), BCR-ABL1 positive, nine patients had myeloproliferative neoplasia Ph- (MPN-Ph-), three had a myeloid neoplasm associated with a PDGFRA rearrangement, and the remaining two cases were Lymphoproliferative T neoplasms associated with eosinophilia. In addition, 17 patients had a secondary eosinophilia and were used as controls. Eosinophilic enrichment was carried out in all cases. Genomic imbalances were found in 76% of all MPN patients. Losses on 20q were the most frequent genetic abnormality in MPNs (32%), affected the three types of MPN studied. This study also found losses at 11q13.3 in 26% of patients with MPN-Ph- and in 19p13.11 in two of the three patients with an MPN associated with a PDGFRA rearrangement. In addition, 29% of patients with CML had losses on 8q24. In summary, aCGH revealed clonality in eosinophils in most MPNs, suggesting that it could be a useful technique for defining clonality in these diseases. The presence of genetic losses in new regions could provide new insights into the knowledge of these MPN associated with eosinophilia.

Keywords: array comparative genomic hybridization; eosinophilia; myeloproliferative neoplasms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 11 / chemistry
  • Chromosomes, Human, Pair 19 / chemistry
  • Chromosomes, Human, Pair 20 / chemistry
  • Chromosomes, Human, Pair 8 / chemistry
  • Chronic Disease
  • Clone Cells
  • Comparative Genomic Hybridization
  • Eosinophilia / diagnosis
  • Eosinophilia / genetics*
  • Eosinophilia / pathology
  • Eosinophils / metabolism*
  • Eosinophils / pathology
  • Female
  • Fusion Proteins, bcr-abl / genetics
  • Genome*
  • Genomic Instability
  • Hematologic Neoplasms / diagnosis
  • Hematologic Neoplasms / genetics*
  • Hematologic Neoplasms / pathology
  • Humans
  • Male
  • Middle Aged
  • Myeloproliferative Disorders / diagnosis
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / pathology
  • Receptor, Platelet-Derived Growth Factor alpha / genetics

Substances

  • BCR-ABL1 fusion protein, human
  • Receptor, Platelet-Derived Growth Factor alpha
  • Fusion Proteins, bcr-abl