Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene

Pediatr Blood Cancer. 2011 May;56(5):846-9. doi: 10.1002/pbc.22765. Epub 2011 Jan 13.

Abstract

Acute megakaryoblastic leukemia (AMKL) with t(1;22)(p13;q13) is a subset of acute myeloid leukemia (AML) representing <1% of all cases and about 70% of pediatric AMKL in the first year of life. We present a case of a 7-month-old female in whom the bone marrow karyotype showed the derivative chromosome der(22)t(1;22)(p13;q13). The RBM15-MKL1 fusion transcript was detected by RT-PCR and confirmed by sequencing analyses. FISH analyses revealed the presence of the four-way translocation t(1;22;17;18)(p13;q13;q22;q12).

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Leukemia, Megakaryoblastic, Acute / pathology
  • Oncogene Proteins, Fusion / genetics*
  • RNA, Messenger / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic / genetics*

Substances

  • OTT-MAL fusion protein, human
  • Oncogene Proteins, Fusion
  • RNA, Messenger