Molecular genetic and clinical characterization of acute myeloid leukemia with trisomy 8 as the sole chromosome abnormality.

INTRODUCTION

The aim of the study was to determine molecular genetic and clinical characterization of acute myeloid leukemia (AML) with trisomy 8 as the sole chromosome abnormality, a recurrent but rare chromosomal abnormality in AML.

METHODS

Interphase fluorescence in situ hybridization, reverse transcriptase-quantitative polymerase chain reaction for gene rearrangement and next-generation sequencing (NGS) were performed on sole trisomy 8 AML patients.

RESULTS

A total of 35 AML patients with trisomy 8 as the sole chromosome abnormality were screened. The most frequently mutated genes were (37.1%), (28.6%), -ITD(28.6%), (22.9%), (17.1%), and (14.3%). The sole +8 AML patients exhibited more mutations in (28.6% . 4.8%, = 0.001) and (14.3% . 4.8%, = 0.039) by comparing with normal karyotype AML (NK AML) patients(= 63). The sole +8 AML patients( = 35) with or mutations showed significantly lower WBC counts, while -ITD showed higher white blood cell (WBC) counts as compared to the corresponding wild-type groups. Total of 45.7% patients achieved complete remission (CR) after the first induction therapy. The CR rate of patients with -ITD or mutation was significantly lower than that in the corresponding wild-type cases (= 0.047, 0.005, respectively). The median overall survival (OS) and disease-free survival (PFS) were 18.0 (95% CI: 10.8-25.2) and 10 (95% CI: 6.7-13.3) months, respectively. -ITD mutations and allogeneic hematopoietic stem cell transplantation (allo-HSCT) were independent prognostic markers for OS in multivariable analysis.

CONCLUSION

The results suggest a possible association between trisomy 8 and additional mutations that may influence clinical feature and prognosis.