Clinical features and diagnostic progress of activated phosphoinositide 3-kinase δ syndrome / 中国综合临床

Activated phosphoinositide 3-kinase δ syndrome(APDS) is an autosomal dominant inherited primary immunodeficiency disease that is caused by mutations in PIK3CD or PIK3R1 genes leading to overactivation of the PI3Kδ signaling pathway, first reported by Angulo et al in 2013. The clinical manifestations of the disease are recurrent respiratory tract infections, benign lymph node hyperplasia, autoimmune diseases, lymphoma and so on. Although most patients develop the disease in childhood, there are also reports of adult onset and asymptomatic patients. In addition, the immunophenotype of activated phosphoinositide 3-kinase δ syndrome is changeable, usually the IgA levels are reduced, the IgM levels can be normal or elevated, and the IgG levels are variable, so it is easy to be misdiagnosed at first diagnosis. There is no unified diagnostic standard at present, and timely genetic testing is required to confirm the diagnosis.

Advances in the diagnosis of acid sphingomyelinase deficiency / 中国医师杂志

Acid sphingomyelinase deficiency (ASMD), also known as type A and B Niemann-Pick disease, is a group of intra-lysosomal lipid storage diseases caused by mutations in the SMPD1 gene that decrease acid sphingomyelinase activity or even cause deletion, resulting in abnormal deposition of sphingolipids. This disease can be diagnosed by bone marrow aspiration, pathological biopsy, acid sphingomyelinase activity measurement and SMPD1 gene testing. In recent years, with the rapid progress of molecular diagnostic techniques, new insights have been gained in the laboratory diagnosis of ASMD by means of molecular genetic tests, biomarkers and acid sphingomyelinase activity assay. This article will review the diagnostic progress of ASMD, aiming to reduce the misdiagnosis and leakage of the disease and improve the clinicians′ understanding of the disease.

Expression and Significance of PD-1, PD-L1 and PD-L2 in T Cell Subsets and Myeloma Cells in Newly Diagnosed Multiple Myeloma Patients / 肿瘤防治研究

Objective To investigate the expression of PD-1 and PD-L1/2 in T cell subsets and myeloma cells in the bone marrow from newly diagnosed multiple myeloma (NDMM) patients and their relation with clinical features. Methods We collected the bone marrow and clinical data of 22 NDMM patients and 18 cases of healthy controls. We sorted CD4+T cells, CD8+T cells and myeloma cells by flow cytometry, and observed the expression of PD-1 and PD-L1/2. Results Compared with the control group, the proportion of CD8+T cells in the NDMM group was significantly higher, while the ratio of CD4+/CD8+ was significantly lower (both P < 0.05). The expression levels of PD-1 and PD-L2 in CD4+T cells in the NDMM group were significantly higher than those in the control group (both P < 0.05). The expression levels of PD-1, PD-L1 and PD-L2 in T cell subsets and myeloma cells of NDMM patients were not correlated with the gender, age, immune typing, Durie-Salmon stage and subtypes, ISS stage or mSMART3.0 stratification (both P > 0.05). Conclusion Most of MM patients suffering immune abnormality, which may be associated with the mutual immunosuppressive effects between T lymphocytes and plasma cells which expressing PD-1 and PD-L1/2.

Research progress on pathogenesis of skin graft-versus-host disease / 器官移植

Graft-versus-host disease (GVHD) is a major cause that prevents widespread application of allogeneic hematopoietic stem cell transplantation. GVHD is a complication that can affect all systems of the body, such as skin, liver, lung and gastrointestinal tract, among which skin is the most vulnerable organ. At present, the pathogenesis of skin GVHD has not been fully elucidated, and no effective treatment has been established. Severe or extensive chronic GVHD significantly affects the quality of life of the recipients. Consequently, it is urgent to unravel the pathogenesis of skin GVHD and explore novel therapeutic treatment. Cytokines, such as interleukin (IL)-22, IL-17, IL-6 and interferon (IFN)-γ, have been proven to play pivotal roles in the progression of skin GVHD. Nevertheless, the specific mechanism remains elusive. In this article, research progresses at home and abroad on the mechanism underlying the roles of these cytokines in skin GVHD were reviewed, aiming to provide novel ideas for the prevention and treatment of skin GVHD.

Research Progress of HO1 on AntiOxidative Stress Injury of MSC --Review / 中国实验血液学杂志

Mesenchymal stem cell (MSC) is widely used in cell therapy because of its high proliferative and multi directional differentiation potential as well as its low immunogenicity. The transplantation of MSC can help the repair of the injured organs, however, the MSC transplanted to the local organs are affected by oxidative stress and lead to premature aging or apoptosis. Heme oxygenase 1 (HO1) is a key ratelimiting enzyme in the process of heme metabolism, which has the functions of antiinflammation, antioxidation, antiapoptosis, antiaging, reducing cell damage and promoting angiogenesis. Induced high expression of HO1 in MSC could increase the ability of MSC against oxidative stress injury, delay the senescence and apoptosis of MSC, and alleviate cell injury. In this reviews, the research progress of HO1 on antioxidative stress injury of MSC.

The current diagnosis and therapy status of aplastic anemia / 中国医师杂志

Aplastic anemia(AA) is characterized by severe pancytopenia. The clinical features of bone marrow failure syndrome are closely related to viral infection, environment toxin, genetic and acquired gene mutation. Aplastic anemia is a historic disease that often occurred in young people, which was fatal to patients. However, here are many methods can treat and cure this fatal disease. Pathological and physiological studies have important guiding significance for the treatment of aplastic anemia. The diagnosis and treatment of current situation and prospect of aplastic anemia are reviewed in this article.

Treatment progress of mantle cell lymphoma / 白血病·淋巴瘤

Mantle cell lymphoma is a B-cell malignancy with unique biological, pathological and clinical characteristics, accounting for about 5%-10% of non-Hodgkin lymphoma (NHL), and most patients are diagnosed at advanced stage. Mantle cell lymphoma has the aggressive characteristic of aggressive lymphoma and the refractory characteristic of indolent lymphoma, and the prognosis of patients is poor. In recent years, with the development of high-dose chemotherapy, autologous hematopoietic stem cell transplantation and new drug research, the survival time of patients has been significantly prolonged.

Progress of diagnosis and treatment in acute undifferentiated leukemia / 白血病·淋巴瘤

Acute undifferentiated leukemia (AUL) is a clinically rare subtype of acute leukemia (AL). AUL lacks the serial specific antigen expressions, and the blasts have no morphological features of myeloid differentiation. Due to the rarity of AUL in clinic, there is no unified understanding of clinical and biological characteristics. It′s difficult to diagnose and choose the optimal treatment for AUL patients. And the prognosis of patients with AUL is poorer compared with other types of AL. Thanks to the big development of biotechnology in recent years, the related researchers have a better understanding of this rare disease. This article reviews the progress of diagnosis and treatment in AUL.

Progress of ixazomib in treatment of multiple myeloma / 白血病·淋巴瘤

Multiple myeloma (MM) is a clonal proliferation of abnormal plasma cells. Beginning with the use of proteasome inhibitor (PI), the treatment of MM has been significantly improved. Ixazomib is a new generation of PI, the clinical studies have shown that it has good efficacy and safety in frontline therapy, maintenance therapy and treatment of relapsed/refractory MM patients, mainly reflected in prolonging progression-free survival, low peripheral neurotoxicity and long-term medication without accumulated toxicity. This article reviews the mechanism of action, pharmacokinetics, clinical studies and adverse reactions of ixazomib, in order to provide references for the treatment of MM.

Progress of double hit lymphoma and double expression lymphoma / 白血病·淋巴瘤

In 2016, the World Health Organization redefined double hit lymphoma and double expression lymphoma as high-grade lymphoma, a group lymphoma characterized by aggressive disease and poor prognosis. Double hit lymphoma and double expression lymphoma are related to the abnormal expressions of c-myc, bcl-2 and bcl-6 genes. Because of the differences in disease progression and prognosis of both lymphomas, R-CHOP is less effective in treating them. The adjusted R-Hyper-CVAD, R-CODOX-M/IVAC and R-EPOCH regimens have shown good results, but targeted therapy may be the most effective regimen due to their specific genetic abnormalities. This article will review its clinical characteristics, pathogenesis, diagnosis and treatment of double hit lymphoma and double expression lymphoma.

Reaserch Advance on Langerhans Cell Histiocytosis Review / 中国实验血液学杂志

Abstract　　Langerhans cell histiocytosis (LCH) is a disease originated from bone marrow dendritic cells, and classified as a tumor by the discovery of a recurrent somatic BRAF-V600E point mutation in the RAS-RAF-MEK-ERK signaling pathway. The clinical manifestations of LCH are mainly granulomatous lesions composed of clonal pathological tissue cells. According to the lesions and invasive risk organs, it is divided into single system diseases, multi-system diseases with risk-free organ infiltration and multi-system diseases with risk organ infiltration. The diagnosis was based on immunohistochemical pathological dendritic cell-specific markers CD1α+and/or CD207,therefore, according to risk stratification, the regiment and intensity of combination chemotherapy and targeted therapy are drawn up. Prognosis is associates with risk organ infiltration, initial treatment response, and BRAF mutations. Due to the low incidence and lack of systematic knowledge, the clinical understanding of this disease is insufficient, thus the rates of misdiagnosis and therapeutic error are high. In this review, the pathogenesis, clinical manifestations, diagnostic and treatment are summarized. So on to provide a theroretical basis for clinical diagnosis and treatment of the diseases.

Clinical research progress of ibrutinib in the treatment of chronic lymphocytic leukemia / 中国基层医药

Chronic lymphocytic leukemia(CLL) is a heterogeneous mature B lymphocytic tumor.The apoptosis of mature lymphocyte is inhibited and clonal proliferation of mature lymphocyte aggregates in blood, bone marrow, spleen and lymph nodes, resulting in a class of inert hematological tumors.At present, the clinical pathogenesis is not completely clear, environmental and occupational factors do not occupy a major position.Studies have shown that long-term exposure to low-frequency electromagnetic fields may be associated with its incidence, but patients with primary and secondary relatives of lymphatic malignancies increased incidence.Many families still have patients whose age is earlier and the disease is more serious.In recent years, with the continuous improvement of medical level, a variety of treatment methods for chronic lymphoblastic leukemia have emerged, including a variety of new drugs.Ibutinib is the world's first marketed Bruton's tyrosine kinase(BTK) inhibitor, for more patients with chronic lymphoblastic leukemia has brought the gospel.This article reviews the clinical research progress of ibrutinib in treating CLL.

Progress of blastic plasmacytoid dendritic cell neoplasms / 白血病·淋巴瘤

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a kind of highly malignant tumor in the hematological system, which is characterized with low incidence, diverse clinical manifestations, strong invasiveness and poor prognosis, however, currently there has no standard treatment yet. This paper reviews the recent research progress of BPDCN.

Progress of uroacitides in hematological system diseases / 白血病·淋巴瘤

Uroacitide is a new anti-tumor drug, which is extracted from non-cytotoxic urine of the healthy human urine. In recent years, there have been many basic experiments and clinical trials focusing on its role in hematological diseases, especially in the treatment of myelodysplastic syndromes (MDS). There are also some basic researches on the treatment of other hematological diseases, which lays a foundation for further expanding its clinical indications and opens up a new way for the treatment of hematological diseases.

Progress of uroacitides in hematological system diseases / 白血病·淋巴瘤

Uroacitide is a new anti-tumor drug, which is extracted from non-cytotoxic urine of the healthy human urine. In recent years, there have been many basic experiments and clinical trials focusing on its role in hematological diseases, especially in the treatment of myelodysplastic syndromes (MDS). There are also some basic researches on the treatment of other hematological diseases, which lays a foundation for further expanding its clinical indications and opens up a new way for the treatment of hematological diseases.

Treatment research progress of primary immune thrombocytopenia / 中国基层医药

Primary immune thrombocytopenia is an autoimmune disease characterized by reduced platelets, accompanied by or without skin mucous bruises,epistaxis,internal bleeding,etc. Recent years,the treatment of primary immune thrombocytopenia developed very quickly, including the appearance of platelet receptor agonist - Eltrom-bopag. Here,we reviewed the treatment and research development of primary immune thrombocytopenia.

Clinical research progress of ibrutinib in the treatment of chronic lymphocytic leukemia / 中国基层医药

Chronic lymphocytic leukemia(CLL) is a heterogeneous mature B lymphocytic tumor.The apoptosis of mature lymphocyte is inhibited and clonal proliferation of mature lymphocyte aggregates in blood,bone marrow,spleen and lymph nodes,resulting in a class of inert hematological tumors.At present,the clinical pathogenesis is not completely clear,environmental and occupational factors do not occupy a major position. Studies have shown that long -term exposure to low-frequency electromagnetic fields may be associated with its incidence,but patients with primary and secondary relatives of lymphatic malignancies increased incidence. Many families still have patients whose age is earlier and the disease is more serious.In recent years,with the continuous improvement of medical level,a variety of treatment methods for chronic lymphoblastic leukemia have emerged,including a variety of new drugs.Ibutinib is the world＇s first marketed Bruton＇s tyrosine kinase(BTK) inhibitor,for more patients with chronic lymphoblastic leukemia has brought the gospel.This article reviews the clinical research progress of ibrutinib in treating CLL.

Treatment research progress of primary immune thrombocytopenia / 中国基层医药

Primary immune thrombocytopenia is an autoimmune disease characterized by reduced platelets, accompanied by or without skin mucous bruises,epistaxis,internal bleeding,etc.Recent years,the treatment of primary immune thrombocytopenia developed very quickly, including the appearance of platelet receptor agonist - Eltrom-bopag.Here,we reviewed the treatment and research development of primary immune thrombocytopenia.

Effect of Pomalidomide on Activity of Myeloma Cell Line MM1.S and Expression of CRBN / 中国实验血液学杂志

OBJECTIVE@#To explore the effects of different concentration of pomalidomide on human multiple myeloma cell line MM1.S and the expression of CRBN.@*METHODS@#CCK-8 method was used for detecting inhibition effect of promalidomide on proliferation of MM1.S cells. Apoptosis rate of MM1.S cells was detected by flow cytometry with Annexin V-FITC/PI double staining. Real-time quantitative PCR was used to determine CRBN gene expression level. Western blot was used to detect the effect of pomalidomide on the protein expression of CRBN in MM1.S cells.@*RESULTS@#Pomalidomide has an inhibitory effect on MM1.S cells with time-and dose-dependent manners. Pomalidomide induced apoptosis in MM1.S cells. When the concentration of pomalidomide was 0, 40 and 80 μmol/L, the expression of CRBN gene after the treatment of MM1.S cells for 72 hours was 1.487±0.340, 0.211±0.054 and 0.055±0.005, by using actin as internal refereme. Pomalidomide significantly reduced CRBN protein expression in MM1.S cells.@*CONCLUSION@#Pomalidomide can inhibit the proliferation of MM1.S cells and promote its apoptosis. A certain concentration of pomalidomide can reduce the expression of CRBN gene and down-regulate its protein expression in MM1.S cells.

Diagnosis and treatment progress of interdigitating dendritic cell sarcoma / 肿瘤研究与临床

Interdigitating dendritic cell sarcoma (IDCS) is a very rare hematopoietic tissue-derived dendritic cell malignancy. Because of the lack of specific clinical manifestations, pathological diagnosis is still the gold standard for the diagnosis of IDCS. However, there are no standard treatment programs of IDCS at present. Most reports in the literatures on single tumor mainly focus on surgery. And for patients with multiple metastases and relapses in the body, chemotherapy is the major treatment method. IDCS is characterized with high malignancy, rapid clinical progress and poor prognosis. This paper reviews the progress of IDCS diagnosis and treatment.