Expression of CEBPA is reduced in RUNX1-mutated acute myeloid leukemia

V Grossmann,S Jeromin,C Haferlach,A Kohlmann,S Schnittger,W Kern,A Roller,F Dicker,K Butschalowski,U Bacher,T Haferlach

doi:10.1038/bcj.2012.34

Abstract

Expression of CEBPA is reduced in RUNX1-mutated acute myeloid leukemia

Highlights

To clarify whether intragenic RUNX1 mutations such as RUNX1– RUNXT1 fusions result in CEBPAdependent activation of its own (CEBPA) mRNA downregulation, we investigated 359 acute myeloid leukemia (AML) patients consisting of two independent cohorts: cohort 1 with 209 AML cases (109 males/100 females; median age 65.4 years; 19.7–88.1 years) from different cytogenetic subgroups (normal karyotype (n 1⁄4 93), t(8;21)(q22;q22)/RUNX1– RUNX1T1 (n 1⁄4 16), t(15;17)(q22;q12)/PML-RARA (n 1⁄4 15), sole þ 8 (n 1⁄4 12), sole þ 13 (n 1⁄4 10), complex karyotypes (n 1⁄4 10) and other rare noncomplex genetic abnormalities (n 1⁄4 53))
An independent cohort of 150 normal karyotype AML was investigated for RUNX1 mutations (Table 1b), CEBPA expression was quantified using real-time reverse transcriptase PCR (RT-PCR)
CEBPA expression levels were determined by microarray gene expression analysis in cohort 1 including 209 AML patients from different cytogenetic subgroups

Summary

LETTER TO THE EDITOR

Blood Cancer Journal (2012) 2, e86; doi:10.1038/bcj.2012.34; published online 31 August 2012. To clarify whether intragenic RUNX1 mutations such as RUNX1– RUNXT1 fusions result in CEBPA mRNA downregulation, we investigated 359 AML patients consisting of two independent cohorts: cohort 1 with 209 AML cases (109 males/100 females; median age 65.4 years; 19.7–88.1 years) from different cytogenetic subgroups (normal karyotype (n 1⁄4 93), t(8;21)(q22;q22)/RUNX1– RUNX1T1 (n 1⁄4 16), t(15;17)(q22;q12)/PML-RARA (n 1⁄4 15), sole þ 8 (n 1⁄4 12), sole þ 13 (n 1⁄4 10), complex karyotypes (n 1⁄4 10) and other rare noncomplex genetic abnormalities (n 1⁄4 53)). An independent cohort of 150 normal karyotype AML was investigated for RUNX1 mutations (Table 1b), CEBPA expression was quantified using real-time RT-PCR. CEBPA expression levels were determined by microarray gene expression analysis in cohort 1 including 209 AML patients from different cytogenetic subgroups

Total cohort

Within TAD domain

AUTHOR CONTRIBUTIONS