Rearrangement of the Chromatin Organizer Special AT-rich Binding Protein 1 Gene, SATB1, Resulting from a t(3;5)(p24;q14) Chromosomal Translocation in Acute Myeloid Leukemia

Abstract

Background/aim: New chromosomal aberrations continue to be reported in acute myeloid leukemias (AML). The addition of more cases with the same genetic characteristics would establish an acquired aberration as a recurrent change, help determine its prognostic significance, and can provide insight into the mechanisms of leukemogenesis in patients with these rare abnormalities.

Case report: RNA-sequencing was performed on a patient with AML with the bone marrow karyotype 46,XY,t(3;5)(p24;q14)[5]/46,XY[10]. The translocation resulted in fusion of the SATB homeobox 1 gene (SATB1) (3p24) with an expression sequence tag with accession number BG503445 (5q14). The SATB1-BG503445 transcript may code for a SATB1 protein that would lack the C-terminal DNA-binding homeodomain.

Conclusion: The present study is the first to demonstrate rearrangement and disruption of SATB1 in AML. Rearrangements of chromosome band 3p24 were reported in 24 additional AMLs but not in known leukemia-specific chromosomal abnormalities. Further studies are needed to determine whether SATB1-BG503445 or other aberrations of SATB1 are recurrent in AML.

Keywords: Acute myeloid leukemia; RNA-sequencing; SATB1 gene; chromosome translocation; truncation.