title: [Comparison and analysis of SNV results: detected by transcriptome sequencing technology on initial diagnosis and remission stage of a patient with AML-M2].
abstract: This study was aimed to further clarify the pathogenesis of acute myeloid leukemia(AML), and to forecast new somatic mutations related with leukemia. The peripheral blood samples on initial diagnosis and remission stage of a patient with partial differentiated AML(AML-M2) were sequenced by high throughput transcriptome sequencing technology. The single nucleotide variation (SNV) which possibly related with pathogenesis of leukemia was screened through comparison of the expressed genes on initial diagnosis and after remission. The results showed that the Reads distributed uniformly in genome and covered completely, detecting most expression genes. by screening the SNV, a total of 29881 mutations were discovered, including 28113 germline mutations and 752 individual mutations. Among them, 11 acquired mutations (P < 0.05) in coding regions were got, including ZRSR1, MLXIP, TLN1, LAP3, HK3. It is concluded that the high throughput sequencing as an unbiased new method can find new tumor-related mutations. MLXIP may be a new molecular marker of AML-M2.
authors.affiliation: Departments of Hematology, The Third Affiliated Hospital of Soochow University, The First People's Hospital of Changzhou, Changzhou 213003, Jiangsu Province, China.
authors.forename: Pan-Ke
authors.initials: PK
authors.lastname: Gao
authors.affiliation: Departments of Hematology, The Third Affiliated Hospital of Soochow University, The First People's Hospital of Changzhou, Changzhou 213003, Jiangsu Province, China. E-mail: czcao@medmail.com.cn.
authors.forename: Xiang-Shan
authors.initials: XS
authors.lastname: Cao
authors.affiliation: Departments of Hematology, The Third Affiliated Hospital of Soochow University, The First People's Hospital of Changzhou, Changzhou 213003, Jiangsu Province, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Liu
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D059467:Transcriptome / Q000235:genetics*