The Transcriptome Study of Subtype M2 Acute Myeloblastic Leukemia

Abstract

Our objective is to explore the tumor-specific mutated genes by transcriptome sequencing of patients with acute myeloblastic leukemia. 96 patients with subtype M2 acute myeloid leukemia (AML), admitted during January 2007 to January 2012, were selected. Bone marrow and peripheral blood samples from the patients after the first visit and the patients who were improved or alleviated, were subjected to high-throughput sequencing to compare the gene expression. The single nucleotide mutation related to subtype M2 AML was detected. Meanwhile, real-time fluorescent quantitation RT-PCR was used to detect the AML1/ETO fusion gene and its correlation with prognosis after treatment. Among 96 patients, AML1-ETO fusion gene was positive in 52 cases, the positive rate was 54.17 %. The complete relief (CR) rate of AML1-ETO fusion gene positive patients was 84.62 %, and the CR rate of AML1/ETO fusion gene negative patients was 77.27 %; the CR rate of AML1-ETO positive patients was higher than that of patients without the fusion gene, however there was no statistical difference. In the analysis of recurrent gene mutation in AML-M2 patients, IDH2, ASXL1, TET2, JAK1 and JAK2 gene expressions were not significantly different before treatment and after CR, however, IDHI, JAK3, ABL1 and BCR gene expressions were significantly different. In the study of transcriptome in AML-M2 patients, high-throughput sequencing could effectively detect the difference of the gene expression before treatment and after CR. Furthermore, positive expression of AML1-ETO fusion gene had effect on the prognosis of patients.

Genome profiling revealed the activation of IL2RG/JAK3/STAT5 in peripheral T‑cell lymphoma expressing the ITK‑SYK fusion gene

“…In mouse models, the constitutive activation of JAK3 results in megakaryocyte hyperplasia or lymphoproliferative disease (34,35). In human pathology, JAK3 activation was found in haematological malignancies, including adult T-cell leukaemia/lymphoma (36), cutaneous T-cell lymphoma (37,38), natural killer/T-cell lymphoma (39), T-ALL (40), T-cell prolymphocytic leukaemia (41) and acute myeloid leukaemia (42). The majority of abnormal JAK3 activation is related to gain-of-function mutations (43,44).…”

Molecular pathway activation features of pediatric acute myeloid leukemia (AML) and acute lymphoblast leukemia (ALL) cells

“…Over 80% of the affected children are cured, while only 20-40% of the adults achieve complete remission [4, 7]. Multiple molecular peculiarities, such as diagnostic mutations and certain gene expression signatures, have been associated with AML and ALL in previous studies [8–11]. …”