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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

  • Published online on: January 31, 2023     https://doi.org/10.3892/mco.2023.2614
  • Article Number: 18
  • Copyright: © Messiaen et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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March-2023
Volume 18 Issue 3

Print ISSN: 2049-9450
Online ISSN:2049-9469

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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