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t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report

  • Authors:
    • Julie Messiaen
    • Anne Uyttebroeck
    • Lucienne Michaux
    • Peter Vandenberghe
    • Nancy Boeckx
    • Sandra A. Jacobs
  • View Affiliations / Copyright

    Affiliations: Translational Cell and Tissue Research, Department of Imaging and Pathology, KU Leuven, 3000 Leuven, Belgium, Department of Pediatric Hematology and Oncology, University Hospitals Leuven, 3000 Leuven, Belgium, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium, Laboratory of Clinical Bacteriology and Mycology, Department of Oncology, KU Leuven, 3000 Leuven, Belgium
    Copyright: © Messiaen et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 18
    |
    Published online on: January 31, 2023
       https://doi.org/10.3892/mco.2023.2614
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Abstract

Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15‑MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL. At birth, the infant had hepatosplenomegaly and the peripheral blood count revealed anemia, thrombopenia and leukocytosis, with 28% blasts. Immunophenotyping demonstrated blasts positive for CD34, CD61 and CD42b. Karyotyping of these blasts (R‑banding) showed a hitherto unreported chromosomal translocation, t(1;7;22)(p13;q21;q13), a 3‑way variant of the t(1;22)(p13;q13) variant. Fluorescent in situ hybridization analysis confirmed the presence of the RBM15‑MKL1 fusion gene.
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Copy and paste a formatted citation
Spandidos Publications style
Messiaen J, Uyttebroeck A, Michaux L, Vandenberghe P, Boeckx N and Jacobs SA: t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report. Mol Clin Oncol 18: 18, 2023.
APA
Messiaen, J., Uyttebroeck, A., Michaux, L., Vandenberghe, P., Boeckx, N., & Jacobs, S.A. (2023). t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report. Molecular and Clinical Oncology, 18, 18. https://doi.org/10.3892/mco.2023.2614
MLA
Messiaen, J., Uyttebroeck, A., Michaux, L., Vandenberghe, P., Boeckx, N., Jacobs, S. A."t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report". Molecular and Clinical Oncology 18.3 (2023): 18.
Chicago
Messiaen, J., Uyttebroeck, A., Michaux, L., Vandenberghe, P., Boeckx, N., Jacobs, S. A."t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report". Molecular and Clinical Oncology 18, no. 3 (2023): 18. https://doi.org/10.3892/mco.2023.2614
Copy and paste a formatted citation
x
Spandidos Publications style
Messiaen J, Uyttebroeck A, Michaux L, Vandenberghe P, Boeckx N and Jacobs SA: t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report. Mol Clin Oncol 18: 18, 2023.
APA
Messiaen, J., Uyttebroeck, A., Michaux, L., Vandenberghe, P., Boeckx, N., & Jacobs, S.A. (2023). t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report. Molecular and Clinical Oncology, 18, 18. https://doi.org/10.3892/mco.2023.2614
MLA
Messiaen, J., Uyttebroeck, A., Michaux, L., Vandenberghe, P., Boeckx, N., Jacobs, S. A."t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report". Molecular and Clinical Oncology 18.3 (2023): 18.
Chicago
Messiaen, J., Uyttebroeck, A., Michaux, L., Vandenberghe, P., Boeckx, N., Jacobs, S. A."t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report". Molecular and Clinical Oncology 18, no. 3 (2023): 18. https://doi.org/10.3892/mco.2023.2614
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