Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML

Med Oncol. 2013 Dec;30(4):734. doi: 10.1007/s12032-013-0734-1. Epub 2013 Oct 2.

Abstract

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare clonal hematopoietic diseases presented in the childhood. Both diseases exhibit abnormal karyotype and/or monosomy of chromosome 7 in a subgroup of patients. We screened for copy number variations (CNVs) by array-comparative genomic hybridization (aCHG) the DNA from bone marrow of six MDS and four JMML pediatric patients. Array-CGH analysis identified five cases (50%) with monosomy 7, disclosing the chromosome 7 monosomy in two patients whose samples could not be evaluated by other methods. We identified CNVs in six patients, one of which displayed loss of LMO2, an oncogene that plays a central role in hematopoietic development. Our results suggest that array-CGH is a reliable and accurate technique to identify genomic alterations in MDS and JMML.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Bone Marrow / metabolism
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7 / genetics
  • Comparative Genomic Hybridization / methods
  • Cytogenetics / methods
  • DNA Copy Number Variations / genetics
  • Female
  • Humans
  • Infant
  • Leukemia, Myelomonocytic, Juvenile / diagnosis*
  • Leukemia, Myelomonocytic, Juvenile / genetics*
  • Male
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics*

Supplementary concepts

  • Chromosome 7, monosomy