title: De novoacute myeloid leukemia subtype-M4 with initial trisomy 8 and later acquired t(3;12)(q26;p12) leading to ETV6/MDS1/EVI1 fusion transcript expression: A case report.
abstract: The t(3;12)(q26;p13) translocation is a recurrent chromosomal aberration observed in myeloid malignancies. The translocation results in the generation of the ETV6/myelodysplastic syndrome 1 (MDS1)/ectopic viral integration site 1 (EVI1) fusion gene. However, the present case report is the first to present this rearrangement in acute myelogeneous leukemia (AML)-M4. Notably, this case is the first report of AML-M4 with an initial trisomy 8 and secondary acquired t(3;12)(q26;p13). Cells harboring the t(3;12) translocation were found to exhibit a higher proliferative capacity than cells with pure trisomy 8, which is consistent with the role of the ETV6/MDS1/EVI1 fusion transcript in the development and progression of malignancy.
authors: Department of Molecular Biology and Biotechnology, Division of Human Genetics, Atomic Energy Commission of Syria, Damascus 6091, Syria.
authors: Walid Al
authors: WA
authors: Achkar
authors: Laboratory of Flow-Cytometry, Department of Molecular Biology and Biotechnology, Division of Mammalians Biology, Atomic Energy Commission of Syria, Damascus 6091, Syria.
authors: Abdulmunim
authors: A
authors: Aljapawe
authors: Jena University Hospital, Institute of Human Genetics, Jena 07740, Germany.
authors: Thomas
authors: T
authors: Liehr
authors: Department of Molecular Biology and Biotechnology, Division of Human Genetics, Atomic Energy Commission of Syria, Damascus 6091, Syria.
authors: Abdulsamad
authors: A
authors: Wafa
keywords: ETV6/MDS1/EVI1; acute myeloid leukemia M4; t(3;12)(q26;p13); trisomy 8