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JAK2 V617F gene mutation positive myeloproliferative neoplasms (MPN) consists of polycythemia vera (PV),essential thrombocythemia (ET) and primary myelofibrosis (PMF).This article focuses on their risk scoring systems and treatment including first-and second-line therapies,JAK2 inhibitors,cytoreduction,antifibrosis and other single-agent or combination therapy.
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The myelodysplastic syndrome (MDS) is a clonal disorder characterized by inefficient haematopoiesis,dysplasia of hematopoietic cells in bone marrow and unable production of mature cells with normal differentiation resulting in peripheral cytopenias.The incidence of MDS is increased with the increasing age,suggesting that the accumulation of genetic or epigenetic changes lead to DNA mutations in hematopoietic stem cell,activation of oncogenes and inactivation of tumor suppressor genes,increasing limitless self-proliferation,and eventually resulting in aberrant clonal hematopoiesis and the occurrence of MDS.About thirty percentage of patients with MDS will transform into acute myeloid leukemia (AML) at last.MDS is always not sensitive to cytotoxic drugs,but targeted drugs maybe help to improve the prognosis.
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Objective To investigate the expression and significance of breast cancer suscepterbility gene 1 (BRCA1) in leukemia.Methods Fluorescent quantitative reverse transcription-polymerase PCR was used to investigate the expression of BRCA1 in 18 patients with ALL-L2 (13 denovo ALL patients,5 relapsed ALL patients),20 patients with CML-CP and 15 normal controls.Results The mRNA expression of BRCA1 in denovo patients with ALL was lower than that in normal control,with statistical significance (P ＜ 0.05).The mRNA level of BRCA1 in ALL patients in CR was higher compared with before to cure, with statistical significance (P ＜ 0.05),but lower than that in normal control,without statistical significance(P ＞ 0.05).The mRNA expression of BRCA1 in patients with relapsed ALL was lower than that in normal control with statistical significance (P ＜ 0.05), and lower than that in denovo patients with ALL, without statistical significance (P ＞ 0.05).The mRNA level of BRCA1 showed no difference in CML-CP patients compared with normal control (P ＞ 0.05). Conclusion The different expression of BRCA1 in leukemia indicates that he has closely relationship with the prognosis of leukemia and guides the clinical diagnosis and treatment.
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Objective To investigate correlation between the expression of TIG1 and the prognostic significance in acute leukemia (AL).Methods The TIG1 expression level of 75 AL and 20 normal control (NC) were measured by Real-Time Quantitative PCR(RT-QT-PCR).Results TIG1 gene expressed at a higher level in NC(0.0609±0.0281 ) than that in de novo AL(0.0057±0.0035)(U=-6.321,P=0.000).The expression of TIG1 in complete remission patients(AL-CR)(0.0409±0.0244)were lower than that in NC too(U=-2.582,P=0.01).The expression of TIG1 in AL-CR patients (83.3 ％) were higher than that in de novo AL (53.1％)(U=-6.366,P=0.000).In AL patients,the CR rate of high TIG1 level cases were higher than that in low level cases (x2=4.563,P=0.033).Conclusions Reduced expression of TIG1 may play an important role in the pathogenesis of AL.TIG1 can serve as a marker of poor prognosis in AL.
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Acute promyelocytic leukemia (APL), a subtype of acute myeloid leukemia, is characterized by rapid progress, prone to developing DIC, and high mortality. Typical chromosome translocation with PMLRARα fusion gene occurs in more than 95% of APL cases. Since 1986, the outcome of APL has been significantly improved in our country by firstly using ATRA and ATO for treating APL, making APL of AML curable by chemotherapy only. Based on our limited experiences, we discussed the related problems in the treatment of APL.
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Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene, whose encoded proteins play an important role in cell-cycle regulation, DNA damage repair, induction of apoptosis in damaged cells and the maintenance of genomic stability. Some foreign studies reported the down-regulation of BRCA1 expression in initial treatment leukaemia, and this result may have clinical implications for surveillance of therapy and prognosis .In this review, the construction features, biological characteristics of BRCA1 and the expression of BRCA1 in lenkaemia and lymphoma were covered.
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The treatment for adult refractory /relapsed acute lymphoblastic leukemia is a major challenge in clinical practice. Therapeutic strategies including high-dose single agent,intensified induction,new drugs,targeted therapy,and immunotherapy etc. may be of benefit to some patients. The post-remission treatments remain to be further developed.
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In 2008, WHO classified chronic eosinophilic leukemia with rearranged PDGFRA、PDGFRB or FGFRI as myeloid / lymphoid neoplasm with eosinophilia and PDGFRA、PDGFRB or FGFR1rearrangement and CEL without these abnormalities but with other abnormal clonality as CEL not otherwise specified (CEL-NOS). The article expresses authors' opinion.
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Recent studies have demonstrated that GFI1B is most prominently expressed in cells of the fetal and adult erythroid and megakaryocytic lineages. In 2006,it is first reported that GFI1B is highly expressed in acute myeloid leukemia, especially in erythroleukaemia and megakaryocytic leukaemia.This report provides theoretical basis for diagnosis and differential diagnosis of subtypes of acute myeloid leukaemia.In this review,we covered the expression of GFI1B in leukemia,T-cell lymphoma,myelodysplastic syndrome and so on.
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mTOR exists in the variety of biological cells.The study showed in recent years that mTOR signaling pathway activation and tumor occurrence and development is closely related,and participate in many of the tumor cell proliferation and differentiation.including blood malignant tumora.Research shows that the inhibitor rapamycin and its derivatives,have anti-tumor effects.This reviewed the structure and function,signaling pathway of mTOR in the pathogenesis of leukemia the upper stream of the main adjustment factor and its inhibitors in the application of leukemia.
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The myelodysplastic syndrome (MDS) includes a group of clonal hematopoietic stem disorders,characterized by cytopenia (s),ineffective hematopoiesis and increased risk of bone marrow failure or acute myeloid leukemia transformation.The 2008 classification for MDS revised and enlarged by World Health Organization (WHO) has further improved our understanding of MDS.This paper introduces some experience in diagnosing MDS.
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Anemia secondary to non-hematological and non-malignant diseases remains one of the clinical problems to be fully resolved,because of the complexity in pathogenesis and treatment.This paper only briefly reviews the clinical and hematologic findings,diagnosis and treatment for anemia of chronic disease and renal anemia.