Objective To investigate the detection methods of atypical bcr-abl rearrangement with b3a3 fusion transcript,and to describe the characteristics of this fusion gene.Methods Karyotype analysis,FISH and RT-PCR were applied to detect the break point of bcr-abl fusion gene in a patient who was diagnosed as acute lymphoblastic leukemia.Results The karyotype of the patient was expressed as 45,XY,-7,t(9;22)(q34;q1 1).The translocation event in chromosome 9 and 22 could be successfully detected by FISH,and a rare bcr-abl rearrangement with b3a3 fusion transcript was detected by RT-PCR with specific primers.Conclusions The rare e14a3 (b3a3) fusion of bcr-abl gene is present in this patient.Clinical laboratories using commercial kits that do not cover such rare fusions are likely to generate false result,thereby declaring combination of various methods to detect fusion genes is necessary.More studies are needed to explore the function and significance of rare bcr-abl fusion genes.

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 explore ultrasonic image for the normal anatomy of the larynx,and provide the basis of ultrasonic diagnosis in laryngeal diseases.Methods Ultrasound anatomy for the larynx was established by way of comparing the structures of four corpses and ultrasonic imaging of the larynx of normal control group.Results Ultrasonic image for the normal anatomy of the larynx was established by comparing the anatomy tomography of corpses and ultrasonic imaging of the larynx of normal control group.Conclusions Ultrasonography could be applied in the examination of the laryngeal diseases as it could show unambiguous ultrasonic imagings of the larynx,and adding an important complementary technique to clinical medicine.

OBJECTIVETo conduct a survival analysis of gastric cancer patients according to the data of population-based cancer registry during 2005-2010 in Zhejiang Province in order to provide information for prognosis assessment and control of this disease.

METHODSThe deadline of the last follow-up of 26, 536 patients was December 31st, 2012. Cumulative observed survival rate (OSR) and expected survival rate were calculated by life table and Hakulinen method.

RESULTSthe 1-, 3-, and 5-year OSR were 58.51%, 39.07%, and 33.08%, and the 1-, 3-, and 5-year relative survival rates (RSR) were 60.24%, 42.90%, and 39.03%, respectively. The 1-, 3-, and 5-year relative survival rates of males vs. females were 60.49% vs. 59.65%, 42.88% vs. 42.96%, and 38.76% vs. 39.64%, respectively, statistically with non-significant differences (χ(2) = 0.13, P > 0.05) between them. The 5-year OSR and RSR of urban patients were 39.15% and 46.30%, and the 5-year OSR and RSR of rural patients were 30.81% and 36.32%, with statistically significant differences between them (P < 0.05). The 15-44 age group had a better relative survival rate.

CONCLUSIONSThe survival rate of gastric cancer patients in Zhejiang Province is low. Work of cancer prevention and control should be strengthened. The wide variation in gastric cancer survival rates between urban and rural patients indicates that priority should be given to rural areas in allocating medical and public health resources.

China ; epidemiology ; Female ; Humans ; Male ; Prognosis ; Rural Population ; Stomach Neoplasms ; epidemiology ; Survival Analysis ; Survival Rate

OBJECTIVETo provide reference information for prognosis and control of female cancers by analyzing survival rates of breast, cervical and ovarian cancer patients during 2005-2010 in Zhejiang province.

METHODSThe morbidity and mortality data of 18 133 breast, cervical and ovarian cancer patients whose information were registered in health surveillance zone during 2005-2010 in Zhejiang were analyzed. The December 31(st), 2012 was set as the deadline of survival time. Observed survival rate (OS) and relative survival rate (RS) were calculated using SURV3.01 software and comparison between survival rates was conducted through Hakulinen's likely hood ratio test.

RESULTSThe 5-year OS of breast cancer, cervical cancer, and ovarian cancer were 76.89%, 70.79%, 2.59%, respectively during 2005-2010 in Zhejiang province. The 5-year RS of the three cancers were 80.26%, 73.89%, 55.17%, respectively. The 5-year RS of breast cancer, cervical cancer, and ovarian cancer in urban area were 83.11%, 77.87%, and 57.22% and 78.00%, 72.21%, and 53.83% in rural areas, respectively. The overall RS of urban patients was higher than the rural's (χ(2) = 24.98, 11.55 and 6.62, respectively, all P values < 0.05). The 5-year RS of breast cancer, which was grouped by age, showed that the 15-44 years group was the highest (83.40%), while 65-77 years group was the lowest (74.67%). The 5-year RS of cervical cancer decreased with age, with a 41.73% decrease from 83.83% (15-44 years group) to 42.10% ( ≥ 75 years group). The 15-44 years group showed the highest 5-year RS of ovarian cancer (74.30%), while ≥ 75 years group was the lowest (41.80%).

CONCLUSIONThe prognosis of breast cancer and cervical cancer were relatively optimistic, while the ovarian cancer was not. The prognosis of female cancer patients in urban areas were better than in rural areas.

Adolescent ; Adult ; Aged ; Breast Neoplasms ; China ; Female ; Humans ; Middle Aged ; Ovarian Neoplasms ; Prognosis ; Retrospective Studies ; Rural Population ; Survival Analysis ; Survival Rate ; Urban Population ; Uterine Cervical Neoplasms

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 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 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

OBJECTIVE: To investigate the clinical and immunological characteristics, treatment and prognosis of common variable immune deficiency (CVID) in adult patients. METHODS: We retrospectively analyzed the clinical data of 13 adult patients hospitalized in our hospital for CVID diagnosed according to the criteria in International Consensus Document (2016), and analyzed their clinical manifestations, laboratory test results, imaging findings, pathological examinations and treatments. RESULTS: The mean age of onset was 24.46±16.82 years in these patients, who had a mean age of 32.54±14.86 years at diagnosis with a median diagnostic delay of 5 years (IQR: 2-15 years). The main manifestation of the patients was repeated infections, including repeated respiratory tract infection (10 cases; 76.9%) and repeated diarrhea (3 cases; 23.1%). Three (23.1%) of the patients had autoimmune disease and 10 (76.9%) had chronic pulmonary disease. IgG, IgA and IgM were decreased in all the patients. The proportion of CD4+T cells decreased in 10 patients (76.9%), CD8+T cells increased in 11 patients (84.6%), and CD4/ CD8 decreased in 10 patients (76.9%). Complement C3 decreased in 58.3% (7/12) and C4 decreased in 33.3% (4/12) of the patients. Twelve patients (92.3%) were treated with intravenous infusion of gamma globulin with symptomatic treatments. One patient died due to massive gastrointestinal hemorrhage, and the other patients showed improve ments after the treatments and were discharged. CONCLUSIONS The clinical manifestations of CVID are diverse, and recurrent respiratory tract infection is the most common manifestation. Decreased IgG often accompanied by lowered IgA and IgM levels is a common finding in laboratory tests. The treatment of CVID currently relies on gamma globulin with symptomatic treatments for the complications.
Adolescent ; Adult ; Autoimmune Diseases ; Child ; Common Variable Immunodeficiency ; Delayed Diagnosis ; Humans ; Immunoglobulins, Intravenous ; Middle Aged ; Retrospective Studies ; Young Adult

OBJECTIVETo report an acute promyelocytic leukaemia (APL) case with translocation of rob (13;21) t(15;17) (q22;q21) and review its clinical and laboratory characteristics.

METHODSBased on routine karyotype analysis and bone marrow morphology, we further used double color double fluorescent in situ hybridization (DCDF-FISH) and reverse transcriptase PCR (RT-PCR) to examine the patient's abnormities on cytogenetic and molecular biology, and reveal the clinical characteristics of this rare translocation also from the related literatures.

RESULTSThe clinical manifestation and bone marrow morphology examination of this patient were in accordance with pathologic feature of APL. On first visit, immunophenotyping analysis showed positive myeloid markers. Through R-banding, the patient's karyotype was confirmed as 45, XX, rob(13;21) t(15;17) (q22;q21) [6]/45, XX, rob(13;21) [14]. FISH results showed that 68.9% cells were typical t(15;17) pattern. The positive rates of fusion gene of PML-RARα detected by RT-PCR was 25.8%. Patient was treated by induction and consolidation therapy, the karyotype was 45, XX, rob(13;21 )[20] after complete remission. The positive rate of fusion gene of PML-RARα by FISH and its level were 2.5% and 0.003% respectively.

CONCLUSIONAPL with rob (13;21) t(15;17) (q22;q21) was very rare, which was accorded with clinical and laboratory characteristics of APL. The value of chromosome abnormality as a prognostic marker in APL needs to be further observed..

Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, X ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Leukemia, Promyelocytic, Acute ; Oncogene Proteins, Fusion ; Remission Induction ; Translocation, Genetic