Detection of an MN1::ETV6 Gene Fusion in a Case of Acute Myeloid Leukemia with Erythroid Differentiation: A Case Report and Review of the Literature

Figure 2

Cytogenomic evaluation of t(12;22)(p13;q12) (MN1::ETV6 gene fusion) observed in an adult patient with AML with erythroid differentiation. (a) Representative karyogram demonstrating t(12;22)(p13;q12) (arrows). This translocation was observed in all 20 metaphases. (b) Representative interphase nuclei demonstrating a balanced ETV6 rearrangement (break-apart probe), indicated by separated red (5′ETV6) and green (3′ETV6) signals (arrows) that flank the ETV6 gene region (12p13). (c) Whole-genome sequencing was subsequently performed, and break-end analysis confirmed t(12;22)(p13;q12), with breakpoints located within intron 2 of ETV6 (NM_001987.5) and intron 1 of MN1 (NM_002430.3). (d) The resulting fusion is type I maintaining exons 3–8 of ETV6 and exon 1 of MN1. PNT: pointed domain; ETS: ETS DNA-binding domain; Poly-Gln: polyglutamine domain.

(a)

(b)

(c)

(d)