OBJECTIVE: To explore the clinical and laboratory characteristics of hematological tumors with different types of abnormalities in platelet derived growth factor β (PDGFRβ) gene. METHODS: A retrospective analysis was carried out on 141 patients with abnormal long arm of chromosome 5 (5q) and comprehensive medical history data from Changhai Hospital Affiliated to Naval Medical University from 2009 to 2020, and their clinical data were collected. R-banding technique was used for chromosomal karyotyping analysis for the patient's bone marrow, and fluorescence in situ hybridization (FISH) was used to detect the PDGFRβ gene. The results of detection were divided into the amplification group, deletion group, and translocation group based on FISH signals. The three sets of data column crosstabs were statistically analyzed, and if the sample size was n >= 40 and the expected frequency T for each cell was >= 5, a Pearson test was used to compare the three groups of data. If N < 40 and any of the expected frequency T for each cell was < 5, a Fisher's exact test is used. Should there be a difference in the comparison results between the three sets of data, a Bonferroni method was further used to compare the data. RESULTS: In total 98 patients were detected to have PDGFRβ gene abnormalities with the PDGFRβ probe, which yielded a detection rate of 69.50% (98/141). Among these, 38 cases (38.78%) had PDGFRβ gene amplifications, 57 cases (58.16%) had deletions, and 3 (3.06%) had translocations. Among the 98 cases, 93 were found to have complex karyotypes, including 37 cases from the amplification group (97.37%, 37/38), 55 cases from the deletion group (96.49%, 55/57), and 1 case from the translocation group (33.33%, 1/3). Analysis of three sets of clinical data showed no significant gender preponderance in the groups (P > 0.05). The PDGFRβ deletion group was mainly associated with myeloid tumors, such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) (P < 0.001). The PDGFRβ amplification group was more common in lymphoid tumors, such as multiple myeloma (MM) (P < 0.001). The PDGFRβ translocation group was also more common in myelodysplastic/myeloproliferative tumors (MDS/MPN). CONCLUSION Tumors with PDGFRβ gene rearrangement may exhibit excessive proliferation of myeloproliferative tumors (MPN) and pathological hematopoietic changes in the MDS, and have typical clinical and hematological characteristics. As a relatively rare type of hematological tumor, in addition to previously described myeloid tumors such as MPN or MDS/MPN, it may also cover lymphoid/plasma cell tumors such as multiple myeloma and non-Hodgkin's lymphoma.
Humans ; Clinical Relevance ; Hematologic Neoplasms/genetics* ; In Situ Hybridization, Fluorescence ; Multiple Myeloma ; Myelodysplastic Syndromes ; Retrospective Studies ; Translocation, Genetic

Super-enhancers (SEs) are large clusters of enhancers located near the promoter and are necessary to determine the identity of cancer cells. The alterations of super-enhancers can cause dysregulation of the transcriptional program, which resulted in tumor cells being addicted to certain transcriptional programs. Tumor metastasis is the leading cause of death in cancer. Recently, SEs have been demonstrated to facilitate tumor metastasis by regulating lncRNA generation, tumor microenvironment, epithelial-mesenchymal transition, and cancer stem cells. In this review, the characteristics of SEs, the relationship between SEs and tumor metastasis, and inhibitors against SEs are summarized to provide a reference for the relevant mechanism of SEs regulating tumor metastasis and provide new perspectives for the diagnosis and treatment of patients with cancer metastasis.

Objective To investigate the diagnosis, treatment and prognosis of acute promyelocytic leukemia (APL) with NPM_RARα fusion gene positive. Methods One APL patient with NPM_RARα fusion gene positive who was diagnosed by using morphology, immunology, cytogenetics, molecular biology and multiplex fluorescence in situ hybridization in Changhai Hospital in November 2014 was retrospectively analyzed, and the patient was induced with retinoic acid and treated with DA (daunorubicin + cytarabine) regimen, followed by 4 courses of cytarabine consolidation therapy. Results Abnormal promyelocyte accounted for 0.64 by morphology. And the group of cells expressed myeloperoxidase (MPO), CD13, CD15, CD117, and CD7, CD11c, CD79a, CD123 weakly expressed or not by immunophenotype analysis; karyotype analysis showed 45, XY, t(5;17), 7p-,-16[8]/46, idem,+20[5]/45, idem,-8,+20[2]/46, XY[5]; the fusion gene screening showed that the expression level of NPM_RARα was 416.98% compared with that of APL; molecular complete remission was obtained after the consolidation therapy, but the patient relapsed after 34 months. Finally, the patient died of abnormal coagulation and respiratory failure, with overall survival of 35 months. Conclusion APL with NPM_RARα fusion gene positive is a rare type of acute leukemia, and the main treatment method is retinoic acid combined with myeloid chemotherapy regimen, which has a favorable efficacy but a poor prognosis.

Objective: To investigate the clinical characteristics of extremely severe burn patients complicated with severe inhalation injury caused by dust explosion. Methods: The medical records of 13 extremely severe burn patients complicated with severe inhalation injury in August 2nd Kunshan factory aluminum dust explosion accident, who were admitted to the First Affiliated Hospital of Soochow University on August 2nd, 2014, were retrospectively analyzed. The following indicators were collected: (1) Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) score and Sequential Organ Failure Assessment (SOFA) score at post admission hour (PAH) 24. (2) Prognosis, death time, causes of death, and the mortality of patients with different sexes. (3) The number of times of airway electronic bronchoscopy, airway characteristics, and the corresponding onset time. (4) The number and result of microorganism culture of lesion tissue during the leukoplakia formation stage. Detection of Pseudomonas aeruginosa in patients with and without leukoplakia in airway mucosa. Fisher′s exact probability test was used to detect the mortality of patients with different sexes. Kappa test was used to detect the relevancy between leukoplakia and Pseudomonas aeruginosa. Results: (1) The APACHE Ⅱ score of patients of this group at PAH 24 was (19±3) points, and the SOFA score was (12±3) points. (2) Eight patients survived, while 5 patients died, and the time of death was 19-46 (34±10) d after injury. The main cause of death was multiple organ dysfunction syndrome, which was secondary to severe infection. One of the 7 male patients and 4 of the 6 female patients died, but there was no significantly statistical difference in mortality between patients of the two sexes (P>0.05). (3) Airway electronic bronchoscopy was performed 4-25 (10±5) times among patients of this group. Hyperemia and edema were found in the airway mucosa of all the 13 patients 2-3 weeks after injury; ulcer was found in the airway mucosa of 5 patients 2-4 weeks after injury; leukoplakia was found in the airway mucosa of 7 patients 4-14 weeks after injury; granulation formed in the airway mucosa of 7 patients 10-15 weeks after injury, and airway patency was affected, which was solved after local clamping or replacement of lengthened tracheal cannula. (4) During the leukoplakia formation stage, 19 cases of microorganism culture were performed basing on airway lesion tissue, and the results were 15 cases of Pseudomonas aeruginosa, 5 cases of Acinetobacter baumannii, 2 cases of Serratia marcescens, as well as 1 case of Stenotrophomonas maltophilia, Burkholderia cepacia, and Proteus mirabilis each. Among 7 patients with airway mucosa leukoplakia, 6 patients were detected with Pseudomonas aeruginosa. Among 6 patients without airway mucosa leukoplakia, 1 patient was detected with Pseudomonas aeruginosa. The appearance of leukoplakia was consistent with the detection of Pseudomonas aeruginosa (Kappa=0.69, P<0.05). Conclusions Most of these extremely severe burn patients complicated with severe inhalation injury caused by dust explosion survived, and there was no significant gender difference in mortality. Electronic bronchoscopy showed that the early manifestations of airway mucosa were hyperemia and edema, followed by varying degrees of erosion, ulcer, leukoplakia, and granulation formation, etc. Leukoplakia may be relevant to Pseudomonas aeruginosa infection.

Objective To investigate clinical and hematological features of myeloid neoplasms with eosinophilia and abnormal PDGFRA/B and the effect of imatinib. Methods The data of three eosinophilia patients with abnormal PDGFRA/B fusion gene in Changhai Hospital, the Second Military Medical University and 22 Chinese cases reported in Chinese medical journals were analyzed. Thirty-one cases of idiopathic hypereosinophilic syndrome from Changhai Hospital, the Second Military Medical University were used as the controls. Results Compared with idiopathic hypereosinophilic syndrome, no differences were found in age, percentage of bone marrow eosinophils and counts of platelets in peripheral blood in myeloid neoplasms with eosinophilia and abnormal PDGFRA/B (all P ＞0.05), but statistical differences were found in gender (χ2＝5.080, P ＝ 0.016), peripheral blood white blood cell count (t ＝ 4.908, P ＝ 0.001), eosinophilic granulocyte absolute value (χ2＝ 17.230, P ＝ 0.001) and hemoglobin concentration (t ＝ 2.770, P ＝ 0.013). The median follow-up time was 17 months (3-108 months) in 24 myeloid neoplasms patients with eosinophilia and abnormal PDGFRA/B from Chinese report. Complete hematopoietic remission (CHR) rate was 91.7 % (22/24) after the treatment of imatinib. The total complete molecular remission (CMR) rate was 75.0 % (18/24). The median time of remission was 3 months (1-8 months). CMR in patients with PDGFRA and with PDGFRB was 76.5 % (13/17) and 85.7 % (6/7), respectively. Only one patient (4.2 %) died of disease relapse. Conclusion Imatinib has a favorable effect on myeloid neoplasms with eosinophilia and abnormal PDGFRA/B featured by distinct hematologic and clinical manifestations.

Objective To analyze the application of quality control cycle (QCC) in reducing the false negative rate of minimal residual disease (MRD) of flow cytometry in patients with acute myeloid leukemia (AML). Methods In AML patients with abnormal fusion gene detected in hematology laboratory of Changhai Hospital during the year of 2014, the prevalence of AML-MRD detected both by flow cytometry (FCM) and real-time fluorescence quantitative polymerase chain reaction (FQ-PCR) were analyzed retrospectively. The possible causes of false negative rate of flow cytometric MRD referring to PCR were further deeply analyzed, and the improvement measures were adapted from January 2015 to December 2015 and further judged all according to the QCC methods. Results Pareto diagram showed that the dilution and coagulation of the specimen, the improper analysis strategy and the incomplete combination of the MRD index [composition ratio:83.3 % (60/72)] were the main factors leading to the leakage of FCM MRD in 2014. The QCC group devised measures to reduce the dilution probability of bone marrow and develop a standard operating procedures (SOP) for sampling and testing, strengthen the maintenance of the flow instrument and more importantly, focused on optimizing the antibody panels and gated strategies referring to the current two main kinds of MRD detection combination modes on the basis of the latest advances published in 2015. Finally, the undetected rate of AML-MRD was reduced by FCM from 14.8 % (72/486) in 2014 to 2.6 % (16/620) in 2015. Conclusions The QCC can effectively reduce the leakage rate of flow cytometric AML MRD, improve the ability of laboratory quality control and the ability to solve problems. Solving problems with QCC is thus worthy of being popularized.

Objective To detect the small molecular metabolite profiles of urine from patients with acute pancreatitis (AP) in different severity,and screen the differential metabolites that have potential diagnostic value for AP and its severity.Methods Urine samples were collected from 65 AP patients (MSAP and SAP 29,MAP 36) in the First Affiliated Hospital of Soochow University,and 25 healthy volunteers served as controls.The liquid chromatograph mass spectrometer (LC-MS) combined method was used to detect urine small molecule metabolites of AP patients and healthy controls.Multivariate statistical analysis was used to establish and validate the principal component analysis (PCA) model and partial least squares discriminate analysis (PLS-DA) model to select the differential metabolites.Results PCA model had a good degree of interpretation (R2X ＞0.5),and each group of urine samples showed a good distinction between clustering trends,and good classification models were obtained.In the PLS-DA model,the differences among groups were further highlighted,and samples of each group showed distinct differentiation between clusters,with high predictability (Q2 ＞ 0.7).The model was reliable and effective indicated by the PLS-DA permutation test.17 differential metabolites were screened out by comparing AP with control.A diagnostic model constructed with 7 differential metabolites including nonanedioic acid,succinic acid semialdehyde,D-beta-hydroxy butyric acid,acetylcarnitine,angelic acid,sebacic acid and hippuric acid had a high diagnostic value for AP,with the sensitivity of 100％ and the specificity of 94％.Then control,MAP and MSAP + SAP group were compared with each other,and it was found that the model integrating urine succinic acid semialdehyde,angelic acid,D (-)-beta-hydroxy butyric acid,malic acid and acetylcarnitine had a good diagnostic value for SAP,with the sensitivity and specificity of both 90％.Conclusions LC-MS metabolomics can effectively identify the changes of urine metabolism in patients with different severity of AP.The screened differential metabolites have the potential clinical value in the diagnosis and classification of AP.

OBJECTIVE:To investigate the role of clinical pharmacists on drug therapy for a chemotherapy patient with drug-induced liver injury (DILI).METHODS:Clinical pharmacists participated in the therapy for a patient with colorectal cancer and suggested that ondansetron+metoclopramide+promethazine were given before chemotherapy for stopping vomiting because chemotherapy drugs might lead to gastrointestinal reaction.The patient suffered from DILI before second chemotherapy.According to the history of drug use and the characteristics of drug effects,clinical pharmacists estimated that DILI may be related to Chinese patent medicine (Guben yichang tablets) and TCM formula granules taken during the two chemotherapy periods.Clinical pharmacists recommended Polyene phosphatidylcholine injection 465 mg,ivgtt,qd+Reduced glutathione for injection 1 g,ivgtt,qd for protecting liver tissue,and additionally recommended Compound glycyrrhizin injection 60 mL,ivgtt,qd for inhibiting inflammation and regulating immune function.After liver function of the patient had been recovered,it was suggested to stop polyene phosphatidylcholine,reduced glutathione and compound glycyrrhizin,etc.Pharmaceutical care was also provided,including efficacy evaluation,ADR monitoring,medication education,telephone follow-up,etc.RESULTS:The physicians adopted the suggestions of clinical pharmacists.The liver function indexes of the patient recovered to normal,and then completed chemotherapy smoothly for 3 times.CONCLUSIONS:When tumor patients suffer from DILI during chemotherapy,clinical pharmacists should help physicians fmd and judge the drug factors leading to DILI based on the history of drug use and the characteristics of drug effects,and assist physicians to formulate and adjust medication plan so as to relieve the degree of DILI and guarantee the smooth development of chemotherapy.

Objective To evaluate of left atrial(LA) function in patients with rheumatic mitral stenosis(MS) by real time three‐dimensional echocardiography (RT‐3DE) .Methods Thirty patients with MS and 50 healthy volunteers underwent RT‐3DE . The left atrial end‐diastolic volume (LAVmax ) ,end‐systolic volume (LAVmin ) and pre‐systolic volume (LAVpre ) were measured to calculate the total ,passive and active atrial stroke volume (TASV ,PASV ,AASV) ,left atrial expansion index (LAEI) ,left atrial to‐tal ,passive ,active ejection fraction (LAEF ,LAEFpassive ,LAEFactive ) .The volume data were corrected by body surface area (BSA) to gettheleftatrialend‐diastolicvolumeindex (LAVmaxI),end‐systolicvolumeindex(LAVminI),pre‐systolicvolumeindex(LAVpreI) and the total ,passive and active atrial stroke volume index (TASVI ,PASVI ,AASVI) .The correlations between the LA volume , stroke volume ,function indices and the mitral valve area (MVA) were analyzed .Results (1)LAVmaxI ,LAVminI and LAVpreI were significantly greater in patients with MS than the controls(all P<0 .05) .(2)There was no significant difference in TASVI ,PASVI and AASVI between the two groups(all P>0 .05) .(3) LAEI ,LAEF ,LAEFpassive and LAEFactive were significantly lower in patients with MS than the controls(all P<0 .05) .(4)There was a significant correlation between the LAVmax I ,LAVmin I ,LAVpre I ,LAEF , LAEFpassive and MVA (r= -0 .432 ,-0 .421 ,-0 .440 ,0 .352 ,0 .401 ,all P<0 .05) ,there was no correlation between the TAVSI , PASVI ,AASVI ,LAEI ,LAEFactive and MVA(all P>0 .05) .Conclusion LA function in patients with mitral stenosis decreased .RT‐3DE can be used to evaluate LA function in patients with MS and sinus rhythm .

Objective To analyze the changes in serum procalcitonin (PCT) in patients with extremely severe burn and sepsis,and to evaluate its clinical significance in the prognosis of patients.Methods Thirteen patients with extremely severe burn and sepsis injured in the aluminum dust explosion accident,which occurred in Kunshan of Jiangsu province,were admitted to our unit on August 2nd,2014.They were involved in this retrospective study and divided into death group (n =5) and survival group (n =8) according to the outcome.Acute Physiology and Chronic Health Evaluation (APACHE) Ⅱ score and Sequential Organ Failure Assessment (SOFA) score at post admission hour (PAH) 24 were compared among the patients between two groups.Serum level of PCT,serum level of C-reactive protein (CRP),white cell count,neutrophils,platelet count,level of aspartate transaminase (AST),level of prealbumin (PA),level of creatinine,level of urea nitrogen,and level of blood sodium were compared among the patients between two groups in post admission week (PAW) 1,2,3,and 4.Data were processed with Fisher's exact test,analysis of variance for repeated measurement,t test,and Mann-Whitney test.Receiver operating characteristic (ROC) curves of serum PCT values were plotted to evaluate the predictive value for death of 13 patients in PAW 3 and 4.Results The differences in APACHE Ⅱ score and SOFA score at PAH 24 and serum level of CRP,white cell count,level of AST,level of creatinine,level of urea nitrogen,and level of blood sodium from PAW 1 to 4 of the patients between two groups were not statistically significant (with t values from-1.164 to0.587,Zvalues from-1.872 to-0.442,Pvalues above0.05).The serum levels of PCT in patients of death group in PAW 3 and 4 were respectively (15.8 ± 14.9) and (13.6 ± 5.6) ng/mL,which were significantly higher than those of survival group [(2.4 ± 1.8) and (4.9 ± 6.1) ng/mL,with Z values respectively-2.635 and-2.208,P ＜ 0.05 or P ＜0.01].The serum levels of PCT of patients in death group and survival group in PAW 1 and 2 were close (with Z values respectively-0.732 and -1.025,P values above 0.05).Compared with those of survival group,neutrophils in PAW 4 was significantly increased (t =-3.690,P ＜ 0.01),the platelet count in PAW 4 was significantly decreased (t =4.858,P ＜ 0.01),and the level of PA in PAW 2 was significantly increased in patients of death group (t =-2.320,P ＜ 0.05).There were no statistically significant differences in neutrophils,platelet count,and the level of PA at the other time points of patients between death group and survival group (with t values from-1.562 to 1.904,P values above 0.05).The total areas under ROC curves of serum level of PCT for predicting death of 13 patients with extremely severe burn and sepsis in PAW 3 and 4 were respectively 0.938 and 0.906,and 7.45 ng/mL and 8.77 ng/mL were respectively chosen as the optimal threshold values,with sensitivity of 75.0％ and 100.0％ and specificity of 100.0％ and 87.5％.Conclusions Serum level of PCT in PAW 3 and 4 can be used as the vital prognostic indicators for patients with extremely severe burn and sepsis,and it can be considered as a guide for rational treatment in clinic.