Open Access

RUNX1 truncation resulting from a cryptic and novel t(6;21)(q25;q22) chromosome translocation in acute myeloid leukemia: A case report

  • Authors:
    • Ioannis Panagopoulos
    • Synne Torkildsen
    • Ludmila Gorunova
    • Aina Ulvmoen
    • Anne Tierens
    • Bernward Zeller
    • Sverre Heim
  • View Affiliations

  • Published online on: September 22, 2016     https://doi.org/10.3892/or.2016.5119
  • Pages: 2481-2488
  • Copyright: © Panagopoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Fluorescence in situ hybridization examination of a pediatric AML patient whose bone marrow cells carried trisomy 4 and FLT3-ITD mutation, demonstrated that part of the RUNX1 probe had unexpectedly moved to chromosome band 6q25 indicating a cryptic t(6;21)(q25;q22) translocation. RNA sequencing showed fusion of exon 7 of RUNX1 with an intergenic sequence of 6q25 close to the MIR1202 locus, something that was verified by RT-PCR together with Sanger sequencing. The RUNX1 fusion transcript encodes a truncated protein containing the Runt homology domain responsible for both heterodimerization with CBFB and DNA binding, but lacking the proline-, serine-, and threonine-rich (PST) region which is the transcription activation domain at the C terminal end. Which genetic event (+4, FLT3-ITD, t(6;21)-RUNX1 truncation or other, undetected acquired changes) was more pathogenetically important in the present case of AML, remains unknown. The case illustrates that submicroscopic chromosomal rearrangements may accompany visible numerical changes and perhaps should be actively looked for whenever a single trisomy is found. An active search for them may provide both pathogenetic and prognostic novel information.
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November-2016
Volume 36 Issue 5

Print ISSN: 1021-335X
Online ISSN:1791-2431

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Spandidos Publications style
Panagopoulos I, Torkildsen S, Gorunova L, Ulvmoen A, Tierens A, Zeller B and Heim S: RUNX1 truncation resulting from a cryptic and novel t(6;21)(q25;q22) chromosome translocation in acute myeloid leukemia: A case report. Oncol Rep 36: 2481-2488, 2016
APA
Panagopoulos, I., Torkildsen, S., Gorunova, L., Ulvmoen, A., Tierens, A., Zeller, B., & Heim, S. (2016). RUNX1 truncation resulting from a cryptic and novel t(6;21)(q25;q22) chromosome translocation in acute myeloid leukemia: A case report. Oncology Reports, 36, 2481-2488. https://doi.org/10.3892/or.2016.5119
MLA
Panagopoulos, I., Torkildsen, S., Gorunova, L., Ulvmoen, A., Tierens, A., Zeller, B., Heim, S."RUNX1 truncation resulting from a cryptic and novel t(6;21)(q25;q22) chromosome translocation in acute myeloid leukemia: A case report". Oncology Reports 36.5 (2016): 2481-2488.
Chicago
Panagopoulos, I., Torkildsen, S., Gorunova, L., Ulvmoen, A., Tierens, A., Zeller, B., Heim, S."RUNX1 truncation resulting from a cryptic and novel t(6;21)(q25;q22) chromosome translocation in acute myeloid leukemia: A case report". Oncology Reports 36, no. 5 (2016): 2481-2488. https://doi.org/10.3892/or.2016.5119