In recent years, the development and widespread application of transcriptome sequencing (RNA-seq) technology has provided powerful tools for direct sequencing and identification of possible fusion transcripts. With the increase in reports of large caese about RNA-seq, the real fusion gene map of hematological malignancies revealed by RNA-seq is becoming clearer. This article introduces the related research progress in conjunction with the reports at the 62nd American Society of Hematology Annual Meeting.

The diversity of immune repertoire (IR) is closely related to immune function and tumors derived from B or T lymphocytes.In recent years,the development of next generation sequencing has greatly promoted the progression and application of IR analysis.The research of IR has become a new hotspot of the American Society of Hematology Annual Meeting in 2016.Relevant reports in this meeting will be reviewed together with advances in research and application of IR analysis in hematological malignancies in recent years.

Objective:To analyze the effects of protein intake of varied dietaries on the pregnancy of pregnant women.Methods:The pregnant women who had their medical records in our hospital were included in this study.Their dietary were collected based on the respective review of their food during 24 hours when they visited the Nutrition Clinics between 24 weeks and 28 weeks.The subjects were divided into six groups according to the dietary calories and protein intake:group A (normal calorie and normal protein),group B (normal calorie and low protein),group C (normal calorie and high protein),group D (high calorie and normal protein),group E (high calorie and high protein) and group F (low calorie and low protein).The gestational diabetes mellitus incidence rates,levels of fasting blood glucose (FBG),blood glucose (BG),hemoglobin Alc (HbAlc),and blood lipids,and bone mineral density were compared among six groups.Results:The gestational diabetes mellitus incidence rate,levels of postprandial blood glucose at 1 hour and 2 hour in groups of B,C,D,and E were significantly higher than those in group A (P ＜ 0.05).The levels of triglyceride,total cholesterol,and low density lipoprotein cholesterol were remarkably higher in groups of B,D,and E than those in group A (P ＜ 0.05).The bone mineral density was significantly lower in group A than that in groups of C,E,and F (P ＜ 0.05).Conclusion:The diet with normal calorie and normal protein is the scientific dietary structure.The pattern with high calorie and high protein intake is not recommended for pregnant women.

OBJECTIVE:To observe clinical efficacy and safety of Kangfuxin liquid in the treatment of pediatric hand,foot and mouth disease. METHODS:128 children with hand,foot and mouth disease were randomly divided into observation group and control group,with 64 cases in each group. Control group was given routine treatment as herpes and oral care,antibiotics for infec-tive children reflected by hemogram elevation,fluid infusion and non-steroidal analgesic-antipyretic agent based on disease condi-tion. Observation group was additionally given Kangfuxin liquid,3 ml for below 3 year-old,tid and 5 ml for more than 3 year-old,tid. Clinical efficacy of 2 groups were observed as well as CRP,lactic acid,Ig,the level of myocardial enzyme before and after treatment;the time of symptoms and signs disappearance and ADR were compared between 2 groups after treatment. RE-SULTS:The total effective rate of observation group(89.06%)was significantly higher than that of control group(70.31%),with statistical significance(P<0.05). There was no statistical significance in CRP,lactic acid,Ig and myocardial enzyme before treat-ment and IgM level after treatment between 2 groups,with statistical significance(P>0.05). CRP,lactic acid creatine kinase and lactate dehydrogenase level of 2 groups decreased significantly,while IgA and IgG levels increased significantly,and the observa-tion group was higher than the control group,with statistical significance(P<0.05). Antipyretic time,hand foot skin rash subsided time and oral ulcer healing time of observation group were significantly shorter than those of control group,with statistical signifi-cance(P<0.05). No obvious ADR was found in 2 groups during treatment. CONCLUSIONS:Kangfuxin liquid is effective in the treatment of hand,foot and mouth disease in children,and can effectively improve CRP,Ig,lactic acid,and myocardial enzyme level with good safety.

Structural variation (SV) of the genome is a group of critical genetic abnormalities in hematological tumors. The currently commonly-used cytogenetics and gene testing techniques have significant limitations in the detection of SV. Genome optical mapping technology provides a powerful tool for analyzing SV with ultra-long fragments, high resolution, automation, high throughput and genome-wide range. It is also known as the next-generation cytogenetics (NGC) technology. In recent years, there have been research reports on the use of NGC for the analysis of SV of leukemia genome. The related research progress is now introduced in conjunction with the reports at the 62nd American Society of Hematology Annual Meeting.

The study of gene mutations in leukemia has made great progress during the past decade,which brought innovative changes in understanding of the biological nature and development law of various leukemia.It improves not only the diagnosis,classification and prognosis of leukemia,but also the development of targeted drugs and therapy,which has greatly improved treatment of various types of leukemia.Research on gene mutations is still a hot topic in the 56th American Society of Hematology (ASH) annual meeting in 2014.Research progress in this area and related reports in the 56th ASH meeting will be introduced together with the authors' work experience in this article.

ObjectiveTo understand the characteristics of mutations in BCR-ABL1 kinase domain mutation,these chronic myeloid leukemia (CML) and Ph positive acute lymphoblastic leukemia (ALL)patients who got imatinib treatment had poor effect.MethodsTotally 177 CML patients and 33 Ph( + )ALL patients were selected at Beijing Dao-Pei Hospital from Sep.2007 to Dec.2010.All of them were Chinese patients.Totally 243 bone marrow or peripheral blood specimens were collected from the patients,who had early effect,then resistance emergenced,or for more than 3 months of poor efficacy.Extracted total RNA from the specimens' nuclear cells,reversed transcription to cDNA.Amplified the whole span of BCRABL1 fusion kinase gene by nest PCR (from 242 to 493 amino acid coding sequence),used the type AB3130XL gene sequencing instrument determinate the gene sequence of ABL1 kinase region and then used the Variant Reporter V1.0 software to analyze the results of gene mutations.ResultsThirty-two kinds of different mutations were detected of ABL1 gene mutations,accounting for 34.2％ (83/243 cases).Among them,the T315I was 12％ (10/83),mutation rate was the highest,followed by Y253H was 11％ (9/83),G250E was 7％ (6/83),E255K was 7％ (6/83),M351T was 6％ (5/83),E459K was 5％ (4/83) ;Q252H,D276G,F317L,E355G,F359V,H396R were all 4％ (3/83).Three cases of insertion mutations were found,including 2 cases of 357-358insk,1 case of V304RfsX17.Seven patients had found existence two or more point mutations.The multiple drug resistance mutations might exist in the same leukemia clone.The same individual was not only contain common resistance mutations,but also rare point mutations,insertion mutations.The mutations might be lead to loss of kinase activity.ConclusionsUnder the imatinib drugs pressure,the ABL1 gene mutation in leukemia cells appears randomly,and results in different resistant clones.Different resistant clones can coexist in the same patients in vivo; resistant clones not only contain point mutations,but also contain inserted deletion mutations.

Objective To evaluate the effect of bone mesenchymal stem cells (BMSCs) on lidocaine-induced apoptosis in dorsal root ganglion cells (DRGCs) of rats in vitro.Methods DRGCs in the logarithmic phase were incubated in culture plates at the density of 2 × 104 cells/cm2 (27 wells in total).DRGCs were randomly divided into 3 groups (n =9 each) using a random number table:control group (group C),lidocaine treatment group (group L) and BMSC treatment group (group B).The DRGCs in group C were incubated routinely without lidocaine,while the DRGCs were incubated for 2 h with lidocaine with the final concentration of 50 mmol/L in L and B groups.The DRGCs were then incubated normally in group L.The DRGCs were then co-cultured with the BMSCs which were incubated in Transwell chambers with the density of 2 × 104 cells/cm2 in group B.DRGCs were collected at 48 h of incubation for detection of apoptosis by flow cytometry.Apoptosis rate was calculated.Results Compared with group C,the apoptosis rate was significantly increased in L and B groups (P ＜ 0.05).The apoptosis rate was significantly lower in group B than in group L (P ＜ 0.05).Conclusion BMSCs can reduce lidocaine-induced apoptosis in DRGCs of rats in vitro,indicating that BMSCs may reduce local anesthetics-produced toxicity to the peripheral nerve.

Objective To verify whether iron can accelerate the process of liver fibrosis in rats. Methods The rats were divided into control group, high fat diet group, high iron group, high fat diet and high iron group, high fat diet and de?iron group, each with 24 rats. The rats were allowed to freely take normal diet and high fat diet, while the high iron rats, high?fat diet plus high iron rats received intramuscular injection of 50 mg/kg iron dextran every other day;high?fat di?et plus de?iron group rats received tail intravenous injection of 30 mg/kg deferoxamine one month before death, 3 times/week. 8 rats were selected at 4th, 5th, 6th month of intervention, to detect serum hyaluronic Acid (HA), collagen type IV ( COL?IV) , laminin ( LN) , procollagen III ( PC III) , and observe pathological changes in the liver with Masson staining. Results At 5th month of intervention, serum HA level of the high?fat diet plus high iron group was significantly higher than those of high fat diet group and control group. At 6th month of intervention, serum COL?IV and LN levels of the high?fat diet plus high iron group were significantly higher than those of the high fat diet group. At 6th month, serum PC III level was 1. 63 time of those of the high fat diet group. At the 6th month, liver tissue of high fat diet plus high iron group ap?peared collagen deposition revealed by Masson staining, which was not the case in other groups. Conclusions Iron can accelerate high fat?induced liver fibrosis.

Objective To analyze the etiological factor and genetic feature of a familial hemophagocytic lymphohistiocytosis patient with PRF1 mutation (FHL2) with human herpesvirus 7 (HHV7)infection and its family constellation. Methods Clinical characteristics, laboratory examinations of a FHL2 case with HHV7 infection were reported. HHV1-HHV8 virus DNA was screened by PCR; NK cell function was analyzed by flow cytometry; PRF1 gene mutations were analyzed by PCR and direct sequencing, structure of mutant PRF1 proteins were analyzed using ExPasy and I-TASSER server and genetics pedigree were analyzed. Results The patient's HHV7 viral was detected positive with DNA copy number of 350/106 peripheral nucleated cells. Flow cytometry analysis showed decrease both in proportion of perforin positive NK cells and perforin protein expression. Genetic testing showed PRF1 biallelic heterozygote mutations (c. 503G ＞ A/p. S168N and c. 1177T ＞ C/p. C393R) and pedigree analysis showed they were inherited. The patient was then treated with antivirus therapy, dexamethasone and VP16 therapy, but only achieved partial response. The patient was then followed by human leukocyte antigen 10/10 allele identical nonconsanguinity allogeneic hematopoietic stem cell transplantations (allo-HSCT) and soon the successful implantation of donor hematopoietic cells and persistent recovery was achieved. The patient was now surviving without recurrence for 9 months after allo-HSCT. Conclusions FHL is prone to be misdiagnosed as lymphoma. Genetic analysis of related gene mutation and herpes simplex virus detection will help in early and accurate diagnosis. Allo-HSCT is a fundamental treatment of FHL.