Abstract 4756: Genomic profile of AML-ETO rearranged acute myeloid leukemia

Abstract

Abstract Introduction Although it is well known that core-binding factor(CBF) acute myeloid leukemia(AML) harbors good prognosis, some patients with CBF-AML have dismal outcome. In this study, we tried to find out genomic alterations in CBF-AML so as to find genetic changes that determine prognosis of CBF-AML. Materials and methods We performed whole genome sequencing (WGS) of 9 AML-ETO rearranged AML patients. For whole genome sequencing, we used Hiseq 2000 (Illumina, SanDiego, CA, USA). Single nucleotide variant (SNV) calling was performed using 4 different callers. Structural variant calling was performed using three different callers. Results Among 9 patients, two patients had excellent prognosis, while 3 patients showed unfavorable outcome with conventional chemotherapy. 4 patients had undetermined prognosis. As for SNV, the most frequent common non-synonymous SNV was KIT mutation, while ADAMTS17 and CFAP46 mutation was found in 2/9 patients respectively. Noticeable non-synonymous SNV found only in patients with poor prognosis included NRAS, ADAM29, AGO1, and ALAS2 mutation. For structural variation, LOC44166 inversion, ANKRD26P1 deletion, EMBP1 translocation were noticeable structural variants other than AML-ETO rearrangement in these patients. Conclusion Not a single genetic factor was attributable to the prognosis in CBF-AML. Further validation of genetic alterations found study in this study is ongoing. Citation Format: Youngil Koh, Dae-Yoon Kim, Jong-Kwang Kim, Yeun-June Chung, Sung-Soo Yoon, Hyung-Lae Kim. Genomic profile of AML-ETO rearranged acute myeloid leukemia. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 4756. doi:10.1158/1538-7445.AM2015-4756