Chao Sun

Nanjing Medical University, Nan-ching, Jiangsu Sheng, China

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Publications (8)10.53 Total impact

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    ABSTRACT: Spliceosome mutations have been recently identified and associated with hematological malignancies. SRSF2, one of components of the splicing machinery, has a high mutation frequency during chronic myelomonocytic leukemia, according to previous reports. However, the relevance of this finding in Chinese populations remains unknown. We recruited 50 Chinese patients with chronic myelomonocytic leukemia to analyze the state of SRSF2 and to assess the corresponding clinical features by polymerase chain reaction followed by direct sequencing. Ten of 50 patients (20%) harbored SRSF2 mutations, including five P95R, two 95H, and three P95L point mutations. The patient group was older than the wild type group (P < 0.01). No significant statistical differences were observed with regard to the other clinical characteristics (sex, peripheral blood count, serum lactate dehydrogenase, karyotype, World Health Organization classification, etc.) between these two groups. Two of the patients showed an early evolution to acute myeloid leukemia. SRSF2 mutations are frequent in chronic myelomonocytic leukemia patients, but show a relatively lower incidence in Chinese patients. Moreover, the mutation can be related to old age and an unfavorable prognosis. Our results provide valuable insights for the development of a diagnostic marker, or for the identification of a therapeutic target for chronic myelomonocytic leukemia.
    Chinese medical journal. 12/2014; 127(24):4215-9.
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    ABSTRACT: Abstract Calreticulin, an endoplasmic reticulum protein with multiple functions involving chaperone activity and calcium homeostasis, plays an important role in cellular proliferation and differentiation. Calreticulin dysfunction is known to be associated with different cancers. Very recently, calreticulin mutations have been identified in myeloproliferative neoplasms (MPNs), with a particularly high frequency in MPNs without Janus kinase 2 (JAK2) mutations, which exhibit clinical characteristics different from those with mutant JAK2. Here, we focus on the structure, function, and carcinogenicity of calreticulin, as well as its relationship with MPNs not involving JAK2 mutations.
    Leukemia and Lymphoma 08/2014; · 2.61 Impact Factor
  • Haematologica 07/2014; · 5.87 Impact Factor
  • Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 03/2013; 34(3):273-275.
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    ABSTRACT: MicroRNAs (miRNAs) are of great importance in pathogenesis, diagnosis and prognosis of acute leukemia (AL). We studied five AL-related miRNAs to confirm the significance of these miRNAs in AL. Samples tested included acute myeloid leukemia (AML), 107 cases; acute lymphoblastic leukemia (ALL), 40 cases. Five AL-related miRNAs: miR-128, let-7b, miR-223, miR-181a and miR-155 expression were detected by qRT-PCR. Analysis showed that miRNA-128 expression was significantly higher in ALL (P < 0.001). However, the let-7b and miR-223 expressions in ALL were significantly lower than in AML (P < 0.001). Compared with normal controls, miR-128 expression was significantly higher in ALL (P < 0.001), but there was no significant difference in AML (P = 0.900). The expressions of Let-7b and miR-223 in AL group were higher than in normal controls (P < 0.001). MiR-181a was quantitatively detected in 107 AML patients, and we found that the expression of miR181a in M1 or M2 patients was significantly higher compared with it in M4 or M5 (P = 0.013). According to karyotype, 84 cases of AML were classified into three groups named favorable, moderate and poor. It was found that the expression of miR-181a in favorable prognosis group was significantly lower than in poor prognosis group (P = 0.015). In FLT3-ITD mutation positive patients, the miR-155 expression was significantly higher than in the negative group (P = 0.002). These results support that miR-128, let-7b, miR-223 and miR181a have a diagnosis value in AL, while miR-181a and miR-155 are of great prognostic significance in AML.
    Medical Oncology 12/2011; 29(4):2323-31. · 2.06 Impact Factor
  • Chao Sun, Su-Jiang Zhang
    Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 06/2011; 32(6):423-5.
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    ABSTRACT: This study was purposed to investigate the mutational status of DNA methyltransferase (DNMT3a) gene and the clinical features of AML patients with DNMT3a mutations. Using PCR combined with directly sequencing, the somatic mutations of DNMT3a involving residue of amino acid 882 were detected in 77 AML patients. Furthermore, the clinical features of these patients were also studied. The results showed that the DNMT3a mutation were detected in 7 out of 59 patients with de novo AML (11.9%), which included 4 patients with DNMT3a R882C, 2 patients with DNMT3a R882H and 1 patient with DNMT3a Y874C. Morphology examination indicated that 2 patients were M(2), 1 patient was M(4) and 4 patients were M(5). Cytogenetic analysis revealed that karyotype in 5 out of 7 patients with DNMT3a mutation were normal. In total of 27 patients with normal karyotype 5 patients (22.7%) were found harboring DNMT3a mutation, while no DNMT3a mutation was found in 21 patients with abnormal karyotype. The mutation rate in patients with positive CEBPA was obviously higher than that in patients with negative CEBPA (p = 0.002). Immunophenotype analysis showed that 4 patients (4/7, 57.1%) with DNMT3a mutation expressed lymphoid antigens including CD4 or/and CD7. There were no statistical significance in age, gender, blast cells of bone marrow, white blood cell and platelet counts, hemoglobin level, ratio of CR, mutations of FLT3-ITD, NPM1 and c-kit between patients with DNMT3a mutation and patients with wild DNMT3a (p > 0.05). It is concluded that the DNMT3a mutations are more prevalent in AML patients with normal karyotype accompanying with positive NPM1 and/or CEBPA mutation, the role of DNMT3a mutation in AML prognosis needs to be further studied.
    Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 03/2011; 19(2):303-7.
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    ABSTRACT: Numerous genetic abnormalities which can not be identified by cytogenetic detection (e.g., gene mutations, gene expression abnormalities) have been gradually found, which means that the further molecular classification of AML (acute myeloid leukemia) with distinctive prognosis have arrived. For example, mutations of the transcription factor (CCAAT enhancer binding factor alpha, C/EBPalpha) or nucleophosmin-1 (NPM1) may predict better prognosis, whereas partial tandem duplications of the MLL gene (MLL-PTD), internal tandem duplications of FLT3 (FLT3-ITD) or mutations of WT1 gene confer worse prognosis. This review focuses on the features and relationship of these genetic abnormalities, as well as their influence on the prognosis of AML.
    Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 09/2009; 17(4):1083-7.