Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies

Blood. 2010 Apr 8;115(14):2731-9. doi: 10.1182/blood-2009-10-201848. Epub 2010 Jan 27.

Abstract

Single nucleotide polymorphism arrays (SNP-A) have recently been widely applied as a powerful karyotyping tool in numerous translational cancer studies. SNP-A complements traditional metaphase cytogenetics with the unique ability to delineate a previously hidden chromosomal defect, copy neutral loss of heterozygosity (CN-LOH). Emerging data demonstrate that selected hematologic malignancies exhibit abundant CN-LOH, often in the setting of a normal metaphase karyotype and no previously identified clonal marker. In this review, we explore emerging biologic and clinical features of CN-LOH relevant to hematologic malignancies. In myeloid malignancies, CN-LOH has been associated with the duplication of oncogenic mutations with concomitant loss of the normal allele. Examples include JAK2, MPL, c-KIT, and FLT3. More recent investigations have focused on evaluation of candidate genes contained in common CN-LOH and deletion regions and have led to the discovery of tumor suppressor genes, including c-CBL and family members, as well as TET2. Investigations into the underlying mechanisms generating CN-LOH have great promise for elucidating general cancer mechanisms. We anticipate that further detailed characterization of CN-LOH lesions will probably facilitate our discovery of a more complete set of pathogenic molecular lesions, disease and prognosis markers, and better understanding of the initiation and progression of hematologic malignancies.

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.
  • Review

MeSH terms

  • Alleles
  • Biomarkers, Tumor / genetics*
  • Biomarkers, Tumor / metabolism
  • Chromosome Aberrations*
  • Hematologic Neoplasms / genetics*
  • Hematologic Neoplasms / metabolism
  • Loss of Heterozygosity*
  • Neoplasm Proteins / genetics
  • Neoplasm Proteins / metabolism*
  • Polymorphism, Single Nucleotide*

Substances

  • Biomarkers, Tumor
  • Neoplasm Proteins