TP53 Mutations in Myeloid Malignancies are either Homozygous or Hemizygous due to Copy Number-Neutral Loss of Heterozygosity or Deletion of 17p

Our previous studies demonstrated that single nucleotide polymorphism arrays (SNP-A), applied as a karyotyping platform, complement traditional metaphase cytogenetics (MC) and improve the diagnostic yield of cytogenetic studies because SNP-A can more precisely resolve smaller genetic defects and allow for detection of copy number-neutral loss of heterozygosity (CN-LOH), a defect frequently found in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Like balanced translocations, CN-LOH represents a chromosomal abnormality that occurs without a concurrent change in gene copy number (CN). CN-LOH is an increasingly recognized chromosomal mechanism by which homozygous somatic mutations may be acquired during evolution of hematologic malignancies and can pinpoint the location of such gene(s); examples include CEBPA, FLT3, WT1, RUNX1, JAK2, and NF11.

• Publication year

  2009

• Venue

  Leukemia

• Publication date

  2009-08-17

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/leu.2009.189PMID 19759556PMCID 2806506
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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