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Published on: October 11, 2018

AML M3 and AML M3 variant each have a distinct gene expression signature but also share patterns different from other

Torsten Haferlach1, Alexander Kohlmann, Susanne Schnittger

  • 1Laboratory for Leukemia Diagnostics, University Hospital Grosshadern, Ludwig-Maximilians-University, Munich, Germany. torsten.haferlach@med.uni-muenchen.de

Genes, Chromosomes & Cancer
|March 8, 2005
PubMed

Insights

Gene expression profiling distinguishes acute promyelocytic leukemia (APL) subtypes M3 and M3 variant (M3v). This study identified distinct gene signatures linked to hematologic cell maturation, explaining phenotypic differences in APL patients.

Area of Science:

  • Hematology
  • Molecular Biology
  • Genomics

Background:

  • Acute promyelocytic leukemia (APL) with t(15;17) presents as AML M3 (hypergranular) or AML M3 variant (M3v, hypogranular).
  • Distinct morphologic and clinical features differentiate these APL subtypes.

Purpose of the Study:

  • To investigate global gene expression profiles in APL subtypes M3 and M3v.
  • To identify gene signatures that differentiate APL from other acute myeloid leukemias (AMLs).
  • To elucidate molecular mechanisms underlying the phenotypic differences between M3 and M3v.

Main Methods:

  • High-density DNA-oligonucleotide microarrays were used to analyze gene expression in 35 APL patients (19 M3, 16 M3v).
  • Unsupervised and supervised learning approaches, including 10-fold cross-validation and support vector machines, were employed.
  • Gene expression data were compared with genetic AML classifications and FLT3-LM mutation status.

Main Results:

  • APL samples were clearly separated from other AML subtypes (t(8;21), inv(16), t(11q23)/MLL, normal karyotype).
  • Genes involved in blood coagulation were differentially expressed between APL and other AMLs.
  • Supervised analysis identified differential gene expression between M3 and M3v related to hematologic cell granulation and maturation, achieving 90% classification accuracy.
  • FLT3-LM mutations were more frequent in M3v but did not correlate with the identified M3/M3v gene signatures.

Conclusions:

  • Global gene expression analysis effectively distinguishes APL subtypes M3 and M3v.
  • Differential gene expression patterns provide insights into the distinct morphologic and clinical characteristics of M3 and M3v.
  • While FLT3-LM mutations are associated with M3v, they do not explain the observed gene expression differences between the subtypes.

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