Objective To discuss the instructive roles of fusion gene analysis and karyoptyping of pediatric leukemia in its clinical classification and treatment.

Methods Retrospective analysis of fusion gene and karyotype of 87 pediatric leukemia patients diagnosed in Anhui Provincial Children's Hospital from April 2018 to April 2019.

Results 86.2% of the patients were 1-10 years old. 60 (69.0%) out of the 87 patients were diagnosed with acute lymphoid leukemia (ALL), and the remaining 27 patients (31.0%) were acute myeloid leukemia (AML). Fusion genes were positively detected in 38 patients (43.7%), among which TEL-AML1, AML1-ETO, E2A-PBX1 and BCR-ABL were the most frequent. Karyotyping analysis showed that 55 patients (63.2%) were positive for abnormal chromosome and 29 patients (33.3%) were negative; 3 patients had no data of this kind. Of the 55 patients with abnormal chromosome, the karyotype of 18 patients (32.7%) matched with the corresponding fusion gene, and the remaining 37 patients (67.3%) presented complex karyotype.

Conclusions Pediatric leukemia in Anhui is predominantly lymphoid and the patients are commonly 1-10 years old. Analytical result of fusion gene roughly matches with the karyotyping. However, none of TEL-AML1 fusion gene matches with the karyotype. Thus, both fusion gene analysis and karyotyping are necessary in clinical classification of pediatric leukemia.