High concordance of karyotype analysis and RT-PCR for CBF beta/MYH11 in unselected patients with acute myeloid leukemia. A single center study

Am J Clin Pathol. 2000 Mar;113(3):406-10. doi: 10.1309/D94U-351N-HT3D-F1F3.

Abstract

Identification of the inversion 16 in patients with acute myeloid leukemia (AML) is of great practical value since these patients have a relatively favorable prognosis, especially when treated with high-dose cytarabine. We compared the results of cytogenetic analysis and reverse transcriptase-polymerase chain reaction (RT-PCR) for core binding factor (CBF) beta/myosin heavy chain (MYH11) in 241 unselected cases of AML. In contrast with other studies, we found a high concordance between these 2 methods. Eighteen of 241 patients showed a cytogenetic anomaly of the chromosome 16. We detected the fusion transcript by RT-PCR in all 18 cases and in 2 additional patients with AML without any cytogenetic anomaly of chromosome 16. One patient had a normal diploid karyotype, and the second patient showed a trisomy 22 in karyotype analysis, which often is associated with inv(16). Only 8 of 20 CBF beta/MYH11-positive patients had M4Eo morphologic features. The much higher discrepancy between cytogenetic analysis and RT-PCR in other studies, especially in AMLs other than M4Eo, possibly indicates the necessity for PCR screening regardless of the French-American-British classification.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adolescent
  • Adult
  • Aged
  • Chromosomes, Human, Pair 16 / genetics
  • Chromosomes, Human, Pair 22 / genetics
  • DNA Primers / chemistry
  • Humans
  • Karyotyping*
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / pathology
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • RNA, Neoplasm / analysis
  • Reverse Transcriptase Polymerase Chain Reaction*
  • Sensitivity and Specificity
  • Trisomy

Substances

  • CBFbeta-MYH11 fusion protein
  • DNA Primers
  • Oncogene Proteins, Fusion
  • RNA, Neoplasm