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; Anne Uyttebroeck; Lucienne Michaux; Peter Vandenberghe; Nancy Boeckx; Sandra A Jacobs

doi:10.3892/mco.2023.2614

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

Authors

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

¹ Translational Cell and Tissue Research, Department of Imaging and Pathology, KU Leuven, 3000 Leuven, Belgium.
² Department of Pediatric Hematology and Oncology, University Hospitals Leuven, 3000 Leuven, Belgium.
³ Pediatric Oncology, Department of Oncology, KU Leuven, 3000 Leuven, Belgium.
⁴ Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.
⁵ Department of Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
⁶ Department of Hematology, University Hospitals Leuven, 3000 Leuven, Belgium.
⁷ Laboratory of Clinical Bacteriology and Mycology, Department of Oncology, KU Leuven, 3000 Leuven, Belgium.
⁸ Department of Laboratory Medicine, University Hospitals Leuven, 3000 Leuven, Belgium.

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.

Publication types

Case Reports

Grants and funding

Funding: No funding was received.