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A Case of Acute Myeloid Leukemia with Novel Translocation t(6;11)(p22.2;q23) and Concurrent Insertion ins(11;9)(q23;p21.3p21.3)

  • I. Malinowska
  • B. Sikorska-Fic
  • M. Romiszewska
  • A. Stefaniak
  • A. Pastwińska
  • E. Górska
  • K. Popko
  • C. Meyer
  • R. Marschalek
  • T. Szczepański
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1021)

Abstract

We describe the case of a boy with acute myeloid leukemia with translocation t(6;11)(p22.2;q23) and insertion ins(11;9)(q23;p21.3p21.3). Translocation t(6;11)(p22.2;q23) involving the short arm of chromosome 6 has not been previously described. The LDI-PCR showed the presence of KMT2A-MLLT3 fusion and identified the BTN3A1 (butyrophilin subfamily 3 member A1) gene on 6p22.2 as the other KMT2A translocation partner. The BTN3A1 gene has never been described in the context of acute leukemia. Although this fusion is out of frame, as the antisense strand of BTN3A1 is fused to the sense strand of KMT2A, the loss of heterozygosity of the BTN3A1 gene might contribute to the malignancy of leukemic cells.

Keywords

Acute myeloid leukemia Child Chromosomal translocation FISH KMT2A gene 

Notes

Conflicts of Interest

The authors declare no conflicts of interest in relation to this article.

References

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Copyright information

© Springer International Publishing AG  2017

Authors and Affiliations

  • I. Malinowska
    • 1
  • B. Sikorska-Fic
    • 1
  • M. Romiszewska
    • 2
  • A. Stefaniak
    • 3
  • A. Pastwińska
    • 4
  • E. Górska
    • 5
  • K. Popko
    • 5
  • C. Meyer
    • 6
  • R. Marschalek
    • 7
  • T. Szczepański
    • 8
  1. 1.Department of Pediatrics, Hematology and OncologyMedical University of WarsawWarsawPoland
  2. 2.Department of Pediatrics, Hematology and OncologyPublic Pediatric Teaching HospitalWarsawPoland
  3. 3.Cytogenetics LaboratoryPublic Pediatric Teaching HospitalWarsawPoland
  4. 4.Department of PathologyMedical University of WarsawWarsawPoland
  5. 5.Department of Laboratory Diagnostics and Clinical Immunology of Developmental AgeMedical University of WarsawWarsawPoland
  6. 6.Diagnostic Center of Acute Leukemia, Institute of Pharmaceutical BiologyGoethe University of FrankfurtFrankfurt/MainGermany
  7. 7.Diagnostic Center of Acute Leukemia, Institute of Pharmaceutical BiologyGoethe University of FrankfurtFrankfurt/MainGermany
  8. 8.Department of Pediatric Hematology and OncologyZabrze, Medical University of SilesiaKatowicePoland

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