Molecular characterization of AML with ins(21;8)(q22;q22q22) reveals similarity to t(8;21) AML

✍ Scribed by Frank G. Rücker; Lars Bullinger; Alexander Gribov; Martin Sill; Richard F. Schlenk; Peter Lichter; Hartmut Döhner; Konstanze Döhner

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 540 KB
• Volume: 50
• Category: Article
• ISSN: 1045-2257
• DOI: 10.1002/gcc.20830

✦ Synopsis

Abstract

In acute myeloid leukemia (AML), nonrandom clonal chromosome aberrations are detectable in ∼55% of adult cases. Translocation t(8;21)(q22;q22) resulting in the 5′RUNX1/3′RUNX1T1 fusion gene occurs in ∼8% of AML cases. Also, ins(8;21) and ins(21;8) have been described that show a broad heterogeneity at the molecular level with inserted fragment sizes ranging from 2.4 to 44 Mb. Microarray‐based comparative genomic hybridization (arrayCGH) in 49 intermediate‐risk AML and RT‐PCR‐based screening in 532 AML cases allowed the detection of ins(21;8)/ins(8;21) in three cases; arrayCGH and subsequent RT‐PCR revealed an ∼0.5 Mb sized inserted fragment generating the 5′RUNX1/3′RUNX1T1 fusion gene in one case with a submicroscopic ins(21;8)(q22;q22q22) whereas the other two cases were identified by banding analysis and RT‐PCR, respectively. Gene expression profiling (GEP) and a detailed review of the literature highlighted similar biological features of AML cases with ins(21;8)/ins(8;21) and t(8;21)(q22;q22). Our study demonstrates the potential of high‐resolution array‐based analysis and GEP and provides further evidence that AML with insertions generating the 5′RUNX1/3′RUNX1T1 fusion not only biologically resemble the t(8;21)(q22;q22) AML subgroup, but might also share its prognostically favorable clinical behavior. Thus, similar treatment options should be considered in these patients. © 2010 Wiley‐Liss, Inc.