This is a report of three cases of three male patients. One of the patients had myelodysplastic syndrome, and two had aplastic anemia; their ages were 28, 32, and 21 years old, respectively. Two patients underwent sibling allogeneic hematopoietic stem cell transplantation, and one underwent haploidentical hematopoietic stem cell transplantation. All the patients showed elevated hemoglobin and hematocrit at 6, 16, and 9 months after transplantation, with normal white blood cells and platelets and no splenomegaly. All causes of secondary polycythemia were ruled out. Bone marrow morphology showed no erythroid hyperplasia. The PCR result for BCR-ABL (P210, P230, P190, and variants) was negative, and there were no mutations at the amino acid site 617 of JAK2, exon 12 of JAK2, exon 9 of CALR, and amino acid site 515 of MPL. All three patients had hypertension. One patient was treated with amlodipine, and the other two patients were treated with angiotensin receptor blockers. The durations of erythrocytosis for these three patients were 6 years and 3 months, 4 years and 7 months, and 5 years and 3 months, respectively through December 2022. There was no tendency for spontaneous remission. Erythrocytosis after hematopoietic stem cell transplantation is a rare complication. Previous reports in the literature suggest that the mechanism of post-transplant erythrocytosis in recipients of allogeneic hematopoietic stem cell transplantation may be different from that of recipients of other transplants.

Objective:To investigate the dynamic change and clinical impact of DEK-NUP214 fusion gene in patients with acute myeloid leukemia (AML) receiving allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods:Real-time quantitative polymerase chain reaction (RQ-PCR) and multicolor flow cytometry (FCM) were used to detect DEK-NUP214 gene expression and leukemia-associated immunophenotype (LAIP) in 15 newly diagnosed patients with positive DEK-NUP214 and receiving allo-HSCT from September 2012 to September 2017 at Peking University People′s Hospital. The clinical outcome was analyzed using Kaplan-Meier survival curves. The impact of DEK-NUP214 expression was analyzed by log-rank test.Results:The subjects were followed-up with a median period of 657 (62-2 212) days. The median DEK-NUP214 expression level at diagnosis was 488% (274%-1 692%). Thirteen patients achieved complete remission before allo-HSCT. Thirteen patients had a residual DEK-NUP214 expression of 0.38% (0.029%-738.9%) before allo-HSCT. After allo-HSCT, DEK-NUP214 expression in 9/13 patients remained positive, which dropped by around 500 folds (5.7-5 663.0 folds) within a month post-transplant. Five patients died and 2 patients relapsed. The 3-year cumulative incidence of relapse in patients with positive DEK-NUP214 before transplant was 17.5%±11.3% and the 3-year overall survival was 60.5%±13.8%. After allo-HSCT, DEK-NUP214-negative patients had a better outcome.Conclusion:Quantitative monitor of DEK-NUP214 fusion gene could be a sensitive indicator of MRD status after allo-HSCT.

Objective:To explore the different values of minimal residual disease (MRD) detection by multiparameter flow cytometry (MFC) and real-time quantitative polymerase chain reaction (RQ-PCR) before hematopoietic stem cell transplantation (HSCT) for predicting relapse, leukemia-free survival (LFS) , and overall survival (OS) in Philadelphia chromosome-positive ALL (Ph + ALL) . Methods:A retrospective study ( n=280) was performed. MRD was determined using multiparameter flow cytometry and RQ-PCR. Results:MRD analysis with MFC and RQ-PCR of the BCR-ABL fusion transcript showed a strong correlation before transplantation. The positive rates of MRD detected by MFC and RQ-PCR before transplantation were 25.7% (72/280) and 60.7% (170/280) , respectively. MFC MRD-positive (MRDpos) Ph + ALL patients had a higher 3 year cumulative incidences of relapse (CIR) than did MFC MRD-negative (MRDneg) Ph + ALL patients (23.6% vs 8.6%; P<0.001) . However, the RQ-PCR MRDpos group had similar rates of 3 year OS, LFS, and NRM compared with those in the RQ-PCR MRDneg group. Moreover, patients with RQ-PCR MRD ≥1% experienced higher 3 year CIR (23.1% vs 11.4%; P=0.032) , lower LFS (53.8% vs 74.4%; P=0.015) , and OS (57.7% vs 79.1%; P=0.009) compared with the RQ-PCR MRD<1% group. Multivariate analyses confirmed the association of MFC MRD status and RQ-PCR MRD ≥1% with outcomes ( P<0.05) . The sensitivity, specificity, positive predictive value (PPV) , and negative predictive value (NPV) of MFC detection MRD to predict recurrence were 48.50%, 77.56%, 23.62%, and 87.16%, respectively. Moreover, the sensitivity, specificity, PPV, and NPV were 23.00%, 88.59%, 17.15%, and 91.84%, respectively, when RQ-PCR MRD ≥1% was used to predict recurrence. Additionally, the sensitivity, specificity, PPV, and NPV were 54.29%, 73.88%, 45.7% and 91.87%, respectively, when MRD-positive status before transplantation (MFC MRDpos or RQ-PCR MRD ≥1%) was used to predict recurrence after transplantation. Conclusions:Both MFC and RQ-PCR detection of pretransplant MRD levels can predict the prognosis of Ph + B-ALL patients receiving allogeneic HSCT. MFC MRD-positive status before transplantation is the risk factor of leukemia recurrence after transplantation. The combined use of the two methods (MFC MRDpos or RQ-PCR MRD ≥1%) can improve the sensitivity, PPV, and NPV of predicting recurrence and help to better screen high-risk patients for intervention, thereby improving clinical efficacy.

Objective: To investigate the clinical significance of minimal residual disease (MRD) monitoring by using WT1 gene and flow cytometry (FCM) in patients with myelodysplastic syndrome (MDS) who receiving allogeneic stem cell transplantation (allo-HSCT). Methods: WT1 gene and MDS-related abnormal immunophenotype were examined by real-time quantitative polymerase chain reaction (RQ-PCR) and FCM, respectively. The bone marrow samples were collected from patients with MDS who received allo-HSCT from Feb, 2011 to Oct, 2015 in Peking University People’s Hospital before and after transplantation. Results: Among 92 MDS patients, 40 (48.2%) patients were positive for WT1 (WT1⁺) and 9 (10.8%) patients were positive for flow cytometry (FCM⁺). 27 patients (29.3%) met the criteria of our combinative standard, MRDco (MRDco⁺). Only FCM⁺ post-transplant (P<0.001) and MRDco⁺ (P=0.017) were associated with relapse. The cumulative incidence of relapse (CIR) at 2 years were 66.7% and 1.2% (P<0.001) in FCM⁺ and FCM^- groups. MRDco⁺ group had a 2-year CIR of 23.0% while MRDco^- group had a 2-year CIR of 1.6% (P=0.004). The specificity of post-transplant WT1, FCM and MRDco to predict relapse was 59.0%, 96.4% and 74.7%, respectively. The sensitivity of these three MRD parameters to predict relapse was 66.7%. Conclusion Post-transplant FCM and MRDco are useful tools to monitor MRD for MDS after transplantation. The preemptive intervention based on MRDco is able to reduce the relapse rate.

Objectives: To explore the association between the polymorphism of persistent obesity and genetic variations in the LEP (human leptin gene, LEP) and LEPR (leptin receptor gene, LEPR) genes and different molecular subtypes of breast cancer. Methods: All 703 female patients of breast cancer diagnosed by histopathology in the Sichuan Cancer Hospital or the West China Hospital, excluding patients with metastatic breast cancer or mental disease, were selected as cases from April 2014 to May 2015. At the same time, 805 healthy women received physical examination in medical examination center of Sichuan People Hospital or Shuangliu maternal and child health care hospital, excluding those with therioma, breast disease, and mental disease, were enrolled in control group. A uniform questionnaire was used to collect general information including demographic characteristic, reproductive history height, weight, and so on. And the obesity status in recent 10 years was judged. Time of Flight Mass Spectrometer was used to determine the genotypes of LEP rs7799039, LEPR rs1137100 and LEPR rs1137101, while the multinomial logistic regression analysis was conducted to estimate the effect of risk factors related to breast cancer in different molecular subtypes; and then, the association between polymorphism of persistent obesity, the LEP, LEPR genes and breast cancer of different molecular subtypes was analyzed by binary logistic regression models. Results: The average age of controls was (48.98±8.83) years old, while the age of cases of TNBC, Luminal A, Luminal B, and HER-2+ were (51.43±11.33), (49.94±10.10), (49.73±9.38), (50.50±9.04) years old, respectively. The frequency of genotype LEP rs7799039, LEPR rs1137100 and LEPR rs1137101 in control group was separately 74.8%(1 157/1 546), 83.6%(1 339/1 602) and 88.4%(1 416/1 602); while 77.6% (1 074/1 384), 82.4% (1 155/1 402) and 87.9% (1 232/1 402) respectively in case group. Compared with non-persistent obesity subjects, the persistent obesity ones showed an increased risk in TNBC (OR=3.58, 95%CI: 1.90-6.72), Luminal A (OR=2.65, 95%CI: 1.35-5.21) and Luminal B (OR=1.90, 95%CI: 1.26-2.89) breast cancer. LEP rs7799039-AA was relevant with the upward risk of Luminal B independently (OR=1.30, 95%CI: 1.00-1.69). Besides, persistent obesity was found to have a combined effect on Luminal B (β=3.34, 95% CI: 1.00-11.12) with LEPR rs1137101-GG. Conclusion Persistent obesity could increase the potential risk of TNBC, Luminal A and Luminal B breast cancer. Women who were suffered from persistent obesity with a genotype of LEPR rs1137101-GG were more susceptible to Luminal B breast cancer.

Objective: To investigate the clinical significance of monitoring ETV6-RUNX1 fusion gene in children with acute lymphoblastic leukemia (ALL) after allogeneic stem cell transplantation (allo-HSCT) . Methods: Clinical data of 13 children received allo-HSCT in Peking University Institute of Hematology from May 2009 to March 2016 were retrospectively collected. The ETV6-RUNX1 gene was examined by real-time quantitative polymerase chain reaction (RQ-PCR) . The correlation between its expression level and the disease status was analyzed. Results: Of 13 enrolled ALL cases, the ETV6-RUNX1 expression of 7 patients converted to positive after transplant at a median time of 137 days (range, 28-270 days) . The expression level of the first positive sample was 0.034% (range, 0.004%-0.061%) . The duration from ETV6-RUNX1 positive to hematological relapse was 196 days (range, 28-666 days) . Four patients experienced relapse at a median time of 294 days (range, 104-803 days) after allo-HSCT. The ETV6-RUNX1 expression converted to positive prior to MRD. Patients with positive ETV6-RUNX1 gene expression pre-transplantation would be more likely to relapse. Conclusion Monitoring ETV6-RUNX1 by RQ-PCR could be used to evaluate MRD status after allo-HSCT. Patients with positive ETV6-RUNX1 after transplant had a poor prognosis.

OBJECTIVETo probe monitoring Wilms tumor-1（WT1）gene expression level in acute T lymphoblastic leukemia（T- ALL）following allogeneic hematopoietic stem cell transplantation（allo-HSCT）with prognostic significance.

METHODSThis retrospective study analyzed 68 T-ALL cases from January 2009 to March 2012, that monitoring WT1 gene expression level after allo-HSCT. WT1 expression level was measured with real-time quantitative reverse transcription polymerase chain reaction（RQ-PCR） method at + 30, + 60, + 90, + 180, + 270, + 360 days after allo-HSCT, simultaneously monitoring residual leukemia using flow cytometry（FCM）.

RESULTSLow WT1 gene expression level associated with a low risk of recurrence after allo-HSCT in T-ALL. Increased WT1 gene expression levels at +60 and + 90 days after allo- HSCT associated with higher cumulative incidences of relapse（P<0.001, P=0.003）, and low disease- free survival rates（P=0.004, P=0.006）, and low overall survival rates（P=0.004, P=0.007）. The presence of MRD after allo-HSCT was an independent prognostic factor for relapse in T-ALL. Combining WT1 gene and FCM could be used to monitor recurrence after allo-HSCT.

CONCLUSIONIncreased WT1 gene expression level at +60 and + 90 days after allo-HSCT significantly associated with worse prognosis, that should be intervened as early as possible to reduce the risk of recurrence or death. WT1 gene expression level that was less than 0.6% associated with lower risk of recurrence. WT1 gene expression more than 0.6% that needed close follow- up, combined with FCM monitoring MRD, which required intervention to reduce the relapse.

Disease-Free Survival ; Flow Cytometry ; Gene Expression ; Hematopoietic Stem Cell Transplantation ; Humans ; Neoplasm, Residual ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; Prognosis ; Recurrence ; Retrospective Studies ; Survival Rate ; Transplantation, Homologous ; WT1 Proteins

Objectives To explore the characteristics of status and different populations of prehospital death associated with acute coronary events among young adults in Beijing.Methods Data of acute coronary events of hospitalization or death were obtained from the Hospital Discharge Information System from Beijing Public Health Information Center and Death Register System from Beijing Center for Disease Control in Beijing.The total case fatality rate of acute coronary events and proportion of prehospital coronary heart disease (CHD) death were compared upon gender,area,occupation and marital status among people aged between 25-45 years old.Results A total of 3489 cases were identified during 2007 to 2009 with acute coronary events ( male:3183,female:306),with a mean age of (40.5 ± 4.3 ) years old.The 3-years' overall mortality was 26.0％,with female's higher than male's (51.0％ vs 23.6 ％,P ＜ 0.05 ) ; and it was higher in rural area than in urban areas (28.9％ vs 22.9％,P ＜0.05).Ninety-five percent of death due to acute coronary events occurred prehospital,with the proportion of 95.2％ in male and 94.2％ in female. Among the people with different occupations, self-employed people had the highest rate of prehospital death.Majority of prehospital deaths (64.8％ ) occurred at home.Conclusion More than 90％ of deaths caused by acute coronary events among young adults aged between 25-45 years old occurred before been admitted into hospital,and the site of prehospital deaths was mainly at home.

Objective To evaluate preliminarily the significance of dynamic detection of Wilms'tumor gene(WT1)expression level on monitoring minimal residual disease(MRD)and predicting clinical relapse in patients of malignancy following allogeneic hematopoietic stem cell transplantation(allo-HSCT).Methods WT1 expression level WaS measured with real.time quantitative reverse transcription polymerase chain reaction(RQ-RT-PCR)method on 102 bone marrow specimens from 31 patients following allo.HSCT.WT1 expression level was determined as the ratio of WT1 mRNA to ABL mRNA times 100%.Resuits The levels of WT1 expression showed significant difference between the relapsed group and the non-relapsed group(P＜0.01),with 0.80%and 0.17%as their median expression level respectively.After dynamic measuring WT1 expression level on patients in the relapsed group.the level was found to increase significantly as compared with those during or before the clinical hematological relapse.both being＞1.0%.The level at the time of relapse Was significantly higher than the latest previous one(P＜0.05).Conclusion Dynamic detection of WT1 expression level with RQ-RT-PCR may be of help in monitoring MRD and warning clinical relapse Oil the patients following allo-HSCT.

BACKGROUND: Emblic leafflower fruit contains rich vitamin C, organic acid and mineral substance. It is indicated in modern research that emblic leaafflower fruit acts on preventing from cancer and anti-aging too. In recent years, more and more concerns have been paid to the researches on functional factor of emblic leafflower fruit and the development of the relevant functional food. It has been verified that emblic leafflower fruit acts on reducing lipid and anti-oxidation in vitro, but there are still lacks of enough basic researches to support it.OBJECTIVE: To probe into mechanism of emblid leafflower fruit on anti-oxidation and protection of vascular endothelial function in rabbits with hyperlipemia.DESIGN: Randomized controlled experimental study based on the experimental animals.SETTING: Atherosclerosis(As) experimental room in a university hospital.MATERIALS: Totally 24 normal NewZealand male rabbits, mass weighted (2.2±0.5) kg.METHODS: The experiment was performed in As Experimental Room of Beijing Anzhen Hospital from September 2001 to May 2002. Totally 24 New Zealand male rabbits were randomized into the control, the power of emblid leafflower fruit group(powder group)(4 g/kg day) and hypercholesterolemia model group (model group), 8 rabbits in each group. In both power and model groups, the rabbits were fed with hypercholesterol food. Oxidase method was applied to assay the content of serum lipid, chemical method to assay the plasma total anti-oxidation and the content of malondialdehyde (MDA), radio-immune method to assay the content of plasma endothelin-1 (ET-1), digoxin labeled probe and tissue hybridism in situ to assay the expression of endothelin mRNA of aortic tunica intima, and image analyzer to assay the area of aortic intimal atherosclerosis plaque and the ratio between the area of tunica intima and the area of tunica media.MAIN OUTCOME MEASURES: The primary outcomes included blood lipid level, serum MDA concentration and the comparison of artery plaque areas. The secondary outcomes included the changes in plasma ET-1.RESULTS: By the comparison between the powder group and model group in triglyceride(TG) and low density lipoprotein cholesterol(LDL-C) were significantly reduced [(11.70 ± 1.73), (14.32 ±2.22) mmol/L, P<0.05; (0.740 ± 0.107), (1.450 ± 0.220) mmol/L, P <0.01 successively]and thehigh density lipoprotein cholesterol(HDL-C) was increased MDA was significantly decreased [ (3.88 ± 0.51 ), (6. 29 ± 1.43 ) mmol / L,P < 0.01 ] and the total anti-oxidation significantly increased [ (10. 771der photo-microscope that the plaque area and the ratio between intima area and media area were remarkably decreased [(39.46±6.53), (50.69± 12.36)mmol/L, P < 0.05; (0. 62 ±0. 32), (1.38 ±0.38) mmol/L, Pgranules of aortic intima ET-1 gene were rem~kably decreased compared with the model group.CONCLUSION: Emblic leafflower fruit prevents from the formation of experimental atheromatous plaque in rabbits probably by regulating rabbit lipid metabolism, improving anti-oxidation to reduce lipid peroxidation and protecting endothelial function to inhibit the expression of artery intima ET-1 gene.