Open Access

Cryptic FUS-ERG fusion identified by RNA-sequencing in childhood acute myeloid leukemia

  • Authors:
    • Ioannis Panagopoulos
    • Ludmila Gorunova
    • Bernward Zeller
    • Anne Tierens
    • Sverre Heim
  • View Affiliations

  • Published online on: September 25, 2013     https://doi.org/10.3892/or.2013.2751
  • Pages: 2587-2592
  • Copyright: © Panagopoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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Abstract

Sequential combination of cytogenetics and RNA-sequencing (RNA-Seq) has been shown to be an efficient approach to detect pathogenetically important fusion genes in neoplasms carrying only one or a few chromosomal rearrangements. We performed RNA-Seq on an acute myeloid leukemia in a 2-year-old girl with the karyotype 46,XX,add(1)(p36), der(2)t(2;3)(q21;q21),del(3)(q21),der(10)t(1;10)(q32;q24),der(16)(2qter-->2q21::16p11-->16q24::16p11-->16pter)[13]/46,XX[2] and identified a cryptic FUS/ERG fusion gene. PCR and direct sequencing verified the presence of the FUS-ERG chimeric transcript in which exon 7 of FUS from 16p11 (nt 904 in sequence with accession number NM_004960 version 3) was fused in frame to exon 8 of ERG from sub-band 21q22.2 (nt 967 in NM_004449 version 4). The FUS-ERG transcript found here has been reported in only two other cases of childhood leukemia, in a 1-year-old boy and an 8-month-old boy, both diagnosed with precursor B cell ALL. The fusion transcript codes for a 497 amino acid residues FUS-ERG protein and, similar to other AML-related FUS-ERG fusion proteins, contains both functional domains (TR1 and TR2) of the transactivation domain of FUS and the ETS domain of ERG. The clinical significance, if any, of the amino acid residues which are coded by the exons 8, 9 and 10 of ERG in the fusion FUS-ERG proteins, remains unclear.
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December 2013
Volume 30 Issue 6

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

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Spandidos Publications style
Panagopoulos I, Gorunova L, Zeller B, Tierens A and Heim S: Cryptic FUS-ERG fusion identified by RNA-sequencing in childhood acute myeloid leukemia. Oncol Rep 30: 2587-2592, 2013
APA
Panagopoulos, I., Gorunova, L., Zeller, B., Tierens, A., & Heim, S. (2013). Cryptic FUS-ERG fusion identified by RNA-sequencing in childhood acute myeloid leukemia. Oncology Reports, 30, 2587-2592. https://doi.org/10.3892/or.2013.2751
MLA
Panagopoulos, I., Gorunova, L., Zeller, B., Tierens, A., Heim, S."Cryptic FUS-ERG fusion identified by RNA-sequencing in childhood acute myeloid leukemia". Oncology Reports 30.6 (2013): 2587-2592.
Chicago
Panagopoulos, I., Gorunova, L., Zeller, B., Tierens, A., Heim, S."Cryptic FUS-ERG fusion identified by RNA-sequencing in childhood acute myeloid leukemia". Oncology Reports 30, no. 6 (2013): 2587-2592. https://doi.org/10.3892/or.2013.2751