RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature

Cancer Genet Cytogenet. 2008 Aug;185(1):47-50. doi: 10.1016/j.cancergencyto.2008.04.011.

Abstract

We report here a 73-year old female who was admitted for hematomas, dyspnea, and fever. Hematological data showed pancytopenia with 9% blast cells positive for CD13, CD33, CD34, HLAD2, and myeloperoxydase. A diagnosis of acute myeloid leukemia (AML) type 2 (FAB classification) was made. Banding cytogenetic techniques performed on bone marrow cells showed a 48,XX,+8,+9,del(9)(q22q33)x2 ,t(16;21)(q24;q22)[20]/46,XX[2] karyotype. Fluorescence in situ hybridization (FISH) with BACs covering the RUNX1 (alias AML1) (band 21q22) and MTG16 (band 16q24) gene showed a fusion of both genes. The t(16;21)(q24;q22) has been described in 16 AML cases, including ours. Eleven patients had received chemotherapy for a previous cancer, most of them were been treated with DNA-topoisomerase II inhibitors known to be associated with chromosomal translocations involving the RUNX1 gene. The significant homology between MGT16 and MTG8 suggests that the RUNX1-MTG16 fusion gene induced by the t(16;21)(q24;q22) is a variant of the RUNX1-MTG8 that shares similar activity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aged
  • Chromosome Deletion
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Human, Pair 16*
  • Chromosomes, Human, Pair 21*
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Cytogenetic Analysis
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute / classification
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / genetics*
  • Oncogene Proteins, Fusion / genetics
  • Phosphoproteins / genetics*
  • Repressor Proteins / genetics*
  • Translocation, Genetic*
  • Tumor Suppressor Proteins / genetics*

Substances

  • CBFA2T3 protein, human
  • Core Binding Factor Alpha 2 Subunit
  • Oncogene Proteins, Fusion
  • Phosphoproteins
  • RUNX1 protein, human
  • Repressor Proteins
  • Tumor Suppressor Proteins