FLT3 is fused to ETV6 in a myeloproliferative disorder with hypereosinophilia and a t(12;13)(p13;q12) translocation

Leukemia. 2006 Aug;20(8):1414-21. doi: 10.1038/sj.leu.2404266. Epub 2006 Jun 8.

Abstract

The FMS-like tyrosine kinase 3 (FLT3) gene, belonging to the receptor tyrosine kinase (TK) subclass III family, plays an important role in normal hematopoiesis and is one of the most frequently mutated genes in hematologic malignancies as well as an attractive target for directed inhibition. Activating mutations of this gene, including internal tandem duplication in the juxtamembrane (JM) domain and point mutations in the TK domain, are found in approximately one-third of patients with acute myeloid leukemia and in a smaller subset of patients with acute lymphoblastic leukemia. We report here that FLT3 may contribute to leukemogenesis in a patient with myeloproliferative disorder and a t(12;13)(p13;q12) translocation through generating a fusion gene with the ETS variant gene 6 (ETV6) gene. ETV6 has been reported to fuse to various partner genes, including TK and transcription factors. Both ETV6/FLT3 and reciprocal FLT3/ETV6 transcripts were detected in the patient mRNA by reverse transcriptase-polymerase chain reaction. At the protein level, however, only ETV6/FLT3 products were expressed. Among them, one retains the helix-loop-helix (HLH) oligomerization domain of ETV6 and the JM as well as TK domain of FLT3. FLT3 receptor in leukemic cells might be inappropriately activated through dimerization by HLH domain of ETV6, which consequently interfered with proliferation and differentiation of hematopoietic cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 13*
  • Cloning, Molecular
  • ETS Translocation Variant 6 Protein
  • Female
  • Gene Fusion*
  • Humans
  • Hypereosinophilic Syndrome / genetics*
  • Myeloproliferative Disorders / genetics*
  • Proto-Oncogene Proteins c-ets / genetics*
  • RNA, Messenger / analysis
  • Recombinant Fusion Proteins / genetics
  • Repressor Proteins / genetics*
  • Translocation, Genetic*
  • fms-Like Tyrosine Kinase 3 / genetics*

Substances

  • Proto-Oncogene Proteins c-ets
  • RNA, Messenger
  • Recombinant Fusion Proteins
  • Repressor Proteins
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3