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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

t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute... 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular and Clinical Oncology Spandidos Publications

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

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Publisher
Spandidos Publications
Copyright
Copyright \xC2\xA9 2023 Spandidos Publications
ISSN
2049-9450

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.

Journal

Molecular and Clinical Oncology – Spandidos Publications

Published: Mar 23, 2023

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