MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia and expression of the MNX1 gene in leukemia and normal B cell lines

Cancer Genet Cytogenet. 2008 Oct 15;186(2):115-9. doi: 10.1016/j.cancergencyto.2008.06.009.

Abstract

Patients with infant acute myeloid leukemia (AML) who carry a t(7;12)(q36;p13) translocation have been reported to have a poor clinical outcome. MNX1-ETV6 fusion transcripts (previously HLXB9-ETV6) were rarely detected in AML patients having t(7;12)(q36;p13). A 23-month-old girl with acute megakaryoblastic leukemia (AMKL) exhibited chromosome abnormalities, including add(7)(q22), and del(12)(p12p13). Southern blot analysis of bone marrow cells showed an ETV6 gene rearrangement. Reverse transcriptase-polymerase chain reaction (RT-PCR) followed by sequence analysis revealed the presence of an MNX1-ETV6 fusion gene. The patient responded well to chemotherapy, achieved complete remission, and at writing had been in complete remission for 60 months. The MNX1 expression by RT-PCR was significantly more frequent in Epstein-Barr virus-transformed B-cell lines derived from normal adult lymphocytes than in leukemic cell lines. This represents a novel case of an AMKL patient with MNX1-ETV6 fusion transcripts who had a good prognosis.

Publication types

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

MeSH terms

  • B-Lymphocytes / metabolism*
  • Cell Line, Tumor
  • Chromosome Aberrations
  • ETS Translocation Variant 6 Protein
  • Female
  • Gene Fusion*
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Leukemia / genetics*
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Proto-Oncogene Proteins c-ets / genetics*
  • Repressor Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • MNX1 protein, human
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Transcription Factors