Genetic Factors in Acute Myeloid Leukemia With Myelodysplasia-Related Changes

Am J Clin Pathol. 2020 Apr 15;153(5):656-663. doi: 10.1093/ajcp/aqz206.

Abstract

Objectives: Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous category with a broad range of underlying genetic abnormalities. We investigated the significance of genetic factors in a large series of AML-MRC cases.

Methods: The morphologic findings, genetic data, and patient outcomes were assessed in 186 AML-MRC cases.

Results: The median overall survival (OS) was dismal in AML-MRC patients (median, 7.6 months; 95% confidence interval, 5-10.6 months). Karyotypically normal cases and cytogenetically abnormal cases without myelodysplastic syndrome (MDS)-related cytogenetic abnormalities showed similar OS, significantly better than cases carrying MDS-related cytogenetic abnormalities. MDS-related cytogenetic abnormalities, monosomal or complex karyotype, and history of MDS or myelodysplastic/myeloproliferative neoplasm were all associated with dismal outcome.

Conclusions: AML-MRC predicts a poor prognosis. Our study supports the finding that the genetic profile plays a key role in determining prognosis in AML-MRC as defined according to the World Health Organization revised fourth edition (2017) diagnostic criteria.

Keywords: Acute myeloid leukemia; Genetics; Myelodysplasia-related changes.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / mortality
  • Leukemia, Myeloid, Acute / pathology
  • Male
  • Middle Aged
  • Mutation*
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / mortality
  • Myelodysplastic Syndromes / pathology
  • Nuclear Proteins / genetics
  • Nucleophosmin
  • Prognosis
  • Survival Rate
  • Young Adult
  • fms-Like Tyrosine Kinase 3 / genetics

Substances

  • Nuclear Proteins
  • Nucleophosmin
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3