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- W4318619186 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 <em>in situ</em> hybridization analysis confirmed the presence of the RBM15‑MKL1 fusion gene." @default.
- W4318619186 created "2023-01-31" @default.
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- W4318619186 date "2023-01-31" @default.
- W4318619186 modified "2023-09-30" @default.
- W4318619186 title "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" @default.
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- W4318619186 doi "https://doi.org/10.3892/mco.2023.2614" @default.
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