Open Access

Molecular studies reveal MLL-MLLT10/AF10 and ARID5B-MLL gene fusions displaced in a case of infantile acute lymphoblastic leukemia with complex karyotype

  • Authors:
    • Mitsuteru Hiwatari
    • Masafumi Seki
    • Shogo Akahoshi
    • Kenichi Yoshida
    • Satoru Miyano
    • Yuichi Shiraishi
    • Hiroko Tanaka
    • Kenichi Chiba
    • Seishi Ogawa
    • Junko Takita
  • View Affiliations

  • Published online on: June 20, 2017     https://doi.org/10.3892/ol.2017.6430
  • Pages: 2295-2299
  • Copyright: © Hiwatari et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present report describes a unique infantile acute lymphoblastic leukemia (ALL) case with cryptic mixed‑lineage leukemia (MLL) rearrangements with 11q23 chromosomal translocation. MLL break‑apart signals were identified by fluorescence in situ hybridization, and transcriptome sequencing revealed MLL‑myeloid/lymphoid or mixed‑lineage leukemia; translocated To, 10 (MLLT10)/AF10 fusion transcripts. Analysis also revealed a previously unreported MLLT10/AF10‑homeobox protein Mohawk (MKX) transcript, where the 5' portion of MLLT10/AF10 at 10p12.31 was fused out‑of‑frame with the 3' portion of MKX at 10p12.1, which is closely located to MLLT10/AF10. Furthermore, the reciprocal 3'‑MLL gene segment was fused in‑frame to AT‑rich interaction domain (ARID)5B at 10q21. Previously, common allelic variants in ARID5B, which are directly associated with hematopoietic differentiation and development, have been repeatedly and significantly associated with childhood ALL. The heterozygous genotype in ARID5B (RefSNP: rs10821936) increased the risk for leukemia with MLL‑rearrangement. In particular, single nucleotide polymorphisms of ARID5B conferred increased risk for MLL‑MLLT3/AF9. Based on these findings, the authors propose that while the presence of reciprocal MLL alleles has been detected in this patient, different pathological disease mechanisms may be at play due to individual recombination events.
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August-2017
Volume 14 Issue 2

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Spandidos Publications style
Hiwatari M, Seki M, Akahoshi S, Yoshida K, Miyano S, Shiraishi Y, Tanaka H, Chiba K, Ogawa S, Takita J, Takita J, et al: Molecular studies reveal MLL-MLLT10/AF10 and ARID5B-MLL gene fusions displaced in a case of infantile acute lymphoblastic leukemia with complex karyotype. Oncol Lett 14: 2295-2299, 2017.
APA
Hiwatari, M., Seki, M., Akahoshi, S., Yoshida, K., Miyano, S., Shiraishi, Y. ... Takita, J. (2017). Molecular studies reveal MLL-MLLT10/AF10 and ARID5B-MLL gene fusions displaced in a case of infantile acute lymphoblastic leukemia with complex karyotype. Oncology Letters, 14, 2295-2299. https://doi.org/10.3892/ol.2017.6430
MLA
Hiwatari, M., Seki, M., Akahoshi, S., Yoshida, K., Miyano, S., Shiraishi, Y., Tanaka, H., Chiba, K., Ogawa, S., Takita, J."Molecular studies reveal MLL-MLLT10/AF10 and ARID5B-MLL gene fusions displaced in a case of infantile acute lymphoblastic leukemia with complex karyotype". Oncology Letters 14.2 (2017): 2295-2299.
Chicago
Hiwatari, M., Seki, M., Akahoshi, S., Yoshida, K., Miyano, S., Shiraishi, Y., Tanaka, H., Chiba, K., Ogawa, S., Takita, J."Molecular studies reveal MLL-MLLT10/AF10 and ARID5B-MLL gene fusions displaced in a case of infantile acute lymphoblastic leukemia with complex karyotype". Oncology Letters 14, no. 2 (2017): 2295-2299. https://doi.org/10.3892/ol.2017.6430