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Case Reports
. 2023 Jan 31;18(3):18.
doi: 10.3892/mco.2023.2614. eCollection 2023 Mar.

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

Julie Messiaen  1   2 , Anne Uyttebroeck  2   3 , Lucienne Michaux  4   5 , Peter Vandenberghe  4   6 , Nancy Boeckx  7   8 , Sandra A Jacobs  2   3
Affiliations
Case Reports

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

Julie Messiaen et al. Mol Clin Oncol. .

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.

Keywords: acute myeloid leukemia; chromosomal translocation; pediatric hematology.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
May-Grünwald-Giemsa staining of the peripheral blood showing 2 megakaryoblasts. In addition, 2 normoblasts with anisopoikilocytosis of the red blood cells, a lymphocyte and irregular formed agranular platelets were found. Magnification, x500.
Figure 2
Figure 2
(A) Flow cytometric immunophenotyping of the peripheral blood. Blasts (in red) and myeloid cells (in green) are gated based on CD45/SSC characteristics. (B-D) Blasts and myeloid cells were negative and positive for cyMPO, CD11b, HLA-DR and CD13, respectively. (D-F) A subpopulation of blasts was positive for CD34, while all blasts expressed CD42 and CD61.
Figure 3
Figure 3
(A) Partial R-banded karyotype illustrating the translocation t(1;7;22)(p13;q21;q13). The normal chromosomes are shown on the left-hand side and the abnormal chromosomes are on the right-hand side. (B) Metaphase fluorescence in situ hybridization using the RBM15-MKL1 dual fusion translocation probe. Fusion signals were observed on the derivative chromosomes 1 and 7. A normal RBM15 (green) and MKL1 (red) signal were observed on chromosome 1 and 22, respectively. Der, derivative.
See this image and copyright information in PMC

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