OBJECTIVE: To characterize cytogenetic changes and prognosis of patients with acute myeloid leukemia (AML) from different age groups. METHODS: The karyotypes of 515 AML patients were analyzed by using short-term culture of bone marrow cells and R-banding technique. Combined with FAB typing and genetic testing, cytogenetic changes and prognosis of different age groups were analyzed. RESULTS: The abnormal cloning rate was 54.6% among the 515 patients. The abnormal cloning rate and adverse risk karyotype proportion of those with myeloproliferative syndromes (MDS) and secondary AML were higher than those with de novo AML (P = 0.027; P<0.01). A significant difference was found in the number of structural abnormalities and proportion of favorable risk karyotypes among different age groups (P = 0.026; P = 0.004). And there was also a significant difference in the abnormal cloning rate between different FAB types (P<0.01). In those with non-acute promyelocytic leukemia (APL), the expression level of WT1 gene seemed to affect the prognosis. The survival rate of patients with karyotypes of adverse risk was lower than those with karyotypes of favorable risk (P = 0.015). The survival rate of the ≥60-year-old group was lower than the ≤30-year-old and 31 to 59-year-old groups (P<0.01, P<0.01). CONCLUSION The karyotypes of AML patients have different age distribution characteristics. The survival rate of ≥60-years-old group and karyotype of poor prognosis is low. Patients with MDS with secondary AML have a poor prognosis.
Adult ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics ; Humans ; Karyotype ; Karyotyping ; Leukemia, Myeloid, Acute ; Middle Aged ; Myelodysplastic Syndromes ; Prognosis

OBJECTIVETo assess the value of fluorescence in situ hybridization (FISH) for the detection of genomic abnormalities among patients with chronic lymphocytic leukemia (CLL).

METHODSInterphase FISH was performed on bone marrow samples derived from 105 patients with CLL at the time of diagnosis using probes for D13S319/13q14, ATM/11q22, P53/17p13 and CEP12. The abnormalities and prognostic factors were analyzed. Overall survival of the patients was calculated.

RESULTSThe FISH assay has detected genomic abnormalities in 81 (77.1%) of the patients, among which D13S319/13q14 deletion was the most common (49/105, 46.67%). 24(22.86%) patients had trisomy 12, 21(20.00%) had ATM/11q deletion, and 12(11.43%) had P53/17p deletion. A significant correlation was found between Binet staging and the detected abnormalities (< 0.05). With a median follow-up time of 10 months, 11 patients (10.5%) had died. Compared with those with P53 deletion, patients with 13q deletion showed a better overall survival. However, the overall survival did not significantly differ between patients with various genomic abnormalities (> 0.05).

CONCLUSIONFISH is capable of detecting common genomic aberrations among patients with newly diagnosed CLL. Deletion of D13S319/13q14 is the most common aberration in such patients. Genomic aberrations are significantly correlated with Binet staging but not the overall survival of CLL patients.

Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Leukemia, Lymphocytic, Chronic, B-Cell ; diagnosis ; genetics ; Male ; Middle Aged

Objective To investigate the expressions of aquaporin 4 (AQP4) in the bacterial meningitis in rats and to explore the molecular mechanism for brain edema caused by bacterial meningitis.Methods Totally 40 of 3-week-old-Sprague-Dawley healthy rats,body weight 60-80 g,male or female,were divided into a normal control group(n =10),and infection groups:24 hours after injection(n =10),48 hours after injection(n =10),and 5 days after injection(n =10).The expressions of AQP4 in the brain were detected by immunohistochemistry and Western blot methods respectively after 24 hours,48 hours,5 days of inoculation.Results Mortality rate:no rats in the control group and the infection group after 24 hours were dead.Two rats in the infection group after 48 hours and 4 rats in the infection group after 5 days were dead because of serious sickness,with the mortality rates 20％ and 40％,respectively.AQP4 expression was slightly positive under light microscope,and the positive cells mainly surrounded glial cells and blood vessels,while neurons were not dyed.Immunohistochemical staining showed that AQP4 expression in the model group increased with the severity of edema;compared with the control group,the AQP4 expression in the brain tissues increased in different periods after rats were infected,and the differences between groups were statistically significant (F--91.84,P ＜ 0.01).Western blot analysis showed that after the brain received streptococcus pneumoniae injection,expression of AQP4 began to increase in 24 hours after streptococcal injection,and reached to the peak in 48 hours,but decreased in 5 days,but the expression still remained higher than that of the normal control group.Each group had statistically significant difference(F =14.23,P ＜ 0.01).Conclusions Expression of AQP4 in the models with bacterial meningitis may increase initially and decrease later.It suggests that AQP4 plays a protective role during the development of infectious brain edema.

OBJECTIVETo explore the incidence of chromosome 1 abnormality in myelodysplastic syndrome（MDS）to couple its association with clinical presentation and prognosis.

METHODSR- band karyotype analyses were performed in 672 cases of MDS between 2010 and 2013. Clinical data of those with abnormal chromosome l were collected and then analyzed factors affecting the prognosis.

RESULTSOf 672 cases of patients with MDS, chromosome 1 aberration［der（1）, dup（1）, －1 were most frequent］ were found in 41（6.1%）cases. 1q trisomy was found in 18/41（43.9%）cases, and the most common patterns were duplication of the long arm as well as unbalanced translocation with other chromosomes. Of 41 patients with chromosomal 1 abnormality, 32 cases were accompanied with other chromosomal aberration, usually involving 3 or more abnormal chromosomal karyotypes, e.g., chromosome 8, 7 abnormalities. According to IPSS-R scoring system, 19 patients were diagnosed with very high risk, 10 patients high risk, 10 patients intermediate risk and 2 patients low risk MDS. 9 patients transformed into acute leukemia with median transforming time of 7.18（0.56-54.28）months. Median survival of 36 cases after 2010 was 17.48（95% CI 14.38-20.58）months. There were significant differences on median survival between RAEB and non-RAEB groups（χ²=10.398, P=0.001）, and between with more than 3 chromosome abnormalities and with less than 3 groups（χ²=3.939, P=0.047）. RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.

CONCLUSIONChromosome 1 aberration was not rare in MDS. 1q trisomy was the most common abnormal karyotype in China, which often accompanied with other chromosomal abnormalities. The prognosis of MDS patients with chromosome 1 abnormality was poor, especially worse in those diagnosed with RAEB-1, RAEB-2 and with more than 3 chromosome abnormality. For patients whose percentage of bone marrow blasts less than 5%, the prognosis of patients with 1q trisomy was better than those without 1q trisomy. RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.

Abnormal Karyotype ; Acute Disease ; Anemia, Refractory, with Excess of Blasts ; Bone Marrow ; China ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 1 ; genetics ; Humans ; Karyotyping ; Leukemia ; diagnosis ; genetics ; Myelodysplastic Syndromes ; diagnosis ; genetics ; Prognosis ; Risk Factors ; Trisomy

OBJECTIVETo investigate the expression level of SET gene in patients with acute myeloid leukemia (AML) and evaluate its significance.

METHODSThe expression level of SET gene in 141 de novo AML patients was determined by real time quantitative PCR (RQ-PCR), and its relationship with the clinical features and outcomes of these patients were analyzed.

RESULTSSET gene transcript level was detected in 141 AML patients with the median expression level of 0.86(range 0.02-15.69). AML patients with higher SET gene expression had a higher level of white blood cell (WBC ≥ 100 × 10⁹/L) count than of lower SET gene expression ones (31.0% vs 11.4%, P=0.005). In the 136 patients who received treatment after diagnosis, higher SET gene expression group had lower complete remission rate (50.0%) than of lower expression cohort (73.5%) after two cycles of chemotherapy (P=0.005). Survival analysis showed that patients with higher SET gene expression had significantly shorter overall survival(OS) (10 months vs 22 months, P=0.001) and event-free survival (EFS) (2 months vs 14 months, P=0.005) than of lower SET gene expression ones. Multivariate COX regression analysis showed SET overexpression was an independent prognostic factor for OS. In the patients with the normal karyotype, higher SET expression group also had significantly shorter OS (12 months vs 35 months, P=0.010) and EFS (4 months vs 14 months, P=0.026) than of lower SET expression ones.

CONCLUSIONHigh expression of SET gene was associated with poor prognosis and might be a prognostic molecular marker of AML.

Disease-Free Survival ; Gene Expression Regulation, Neoplastic ; Histone Chaperones ; genetics ; Humans ; Leukemia, Myeloid, Acute ; genetics ; Prognosis ; Remission Induction ; Transcription Factors ; genetics

Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Humans ; Induction Chemotherapy ; Leukemia, Myeloid, Acute ; drug therapy ; Middle Aged

OBJECTIVETo explore the clinical significance of ten-eleven-translocation methylcytosine dioxygenase 2 (TET2) mRNA expression levels in adult acute myeloid leukemia patients with normal cytogenetics (CN-AML).

METHODSExpression levels of TET2 mRNA were measured by real-time PCR in 157 adult CN-AML, and its clinical impact in CN-AML was evaluated as well.

RESULTSTET2 gene expression levels from bone marrow mononuclear cells (BMMNCs) [7.29(3.41-9.99)] and CD34+ cells [6.02(5.64-6.54)] in CN-AML were significantly lower than those [BMMNCs: 8.13(6.68-9.04), P=0.026; CD34+ cells: 6.48(5.97-7.12), P=0.034] in healthy control. And TET2 mRNA level at diagnosis [7.32(6.11-8.41)] was obviously lower than that at complete remission [8.39(7.76-8.79), P<0.01]. CN-AML patients with lower levels of TET2 mRNA showed worse survival rate [(32.7±5.9)%] at 18-month than those with higher levels [(48.6±6.9)%, P=0.041]. In multivariate analysis, lower level of TET2 mRNA was an independent prognostic factor for OS [hazard ratio(HR)2.032, 95% confidence interval (CI)1.272-3.247, P=0.003] and event-free survival [HR 1.532, 95% CI 1.014-2.314, P=0.043].

CONCLUSIONThe level of TET2 mRNA is significantly lower in patients with CN-AML and it is an independent negative prognostic factor. TET2 could be an important factor for the molecular-based risk stratification in CN-AML.

Adult ; Cytogenetic Analysis ; Cytogenetics ; DNA-Binding Proteins ; genetics ; Disease-Free Survival ; Gene Expression ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Leukemia, Myeloid, Acute ; genetics ; Proto-Oncogene Proteins ; genetics ; Real-Time Polymerase Chain Reaction

OBJECTIVETo investigate the incidence of chromosome 11 abnormality in acute myeloid leukemia and its relationship with the clinical aspects and prognosis.

METHODSConventional cytogenetic analysis of R-band was used to detect the abnormalities of chromosome 11 in 356 acute myeloid leukemia patients.

RESULTSThirty-four out of 356 patients (9.55%) had abnormalities of chromosome 11, of which 20 (58.8%) involved in 11q23, 7 (19.9%) had translocations involving 11p15, 5 (14.7%) had-11, and the rest had other abnormalities such as +11, and t(11;14). The incidence of 11q23 involvement in M4 and M5 was higher than other subtypes of acute myeloid leukemia (AML). Ten cases with 11q23 abnormality had additional cytogenetic aberrations. In 30 cases treated with chemotherapy, 13 cases acquired complete remission (CR). The CR rate was lower than that of whole cases of acute myeloid leukemia(34.3% versus 64.0%). The CR rate of AML with 11q23 abnormality was lower than that of AML with normal karyotype (25% versus 55.6%). In other 10 patients with additional chromosome aberrations, the CR rate was lower than that of AML with 11q23 alone. In 7 patients with translocations at 11p15, only 3 patients acquired CR, and 2 patients relapsed early. Only 2 patients acquired CR in 5 patients with-11.

CONCLUSION11q23 was a frequent aberration in chromosome 11 anomaly, which was often detected in M4 and M5. It might be associated with the pathogenesis of acute monolytic leukemia. The patients with chromosome 11 anomaly had poorer prognosis.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; genetics ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; genetics ; pathology ; therapy ; Male ; Middle Aged ; Recurrence ; Translocation, Genetic ; Treatment Outcome

OBJECTIVETo investigate the association between trisomy 21 abnormalities and the clinical and cytogenetic features of hematologic malignancies.

METHODSChromosome preparations were made on bone marrow cells by using direct method and/or unstimulated short-term cultures. Karyotypes were analyzed by R-banding.

RESULTSThirteen patients (1.5%) with acute myeloid leukemia (AML) including 6 cases of M5b, 8 (2.2%) with acute lymphoblastic leukemia (ALL) and 4 cases with other hematologic malignancies had acquired trisomy 21, and in 13 patients it occurred as the sole cytogenetic abnormality. The remaining had combination with other abnormalities. The median survival for the 19 patients with trisomy 21 was 9 months.

CONCLUSIONM5b was the major type in AML with sole acquired trisomy 21.Trisomy 21 as the sole abnormality appeared to have a poor prognosis.

Adolescent ; Adult ; Aged ; Down Syndrome ; complications ; Female ; Follow-Up Studies ; Hematologic Neoplasms ; complications ; genetics ; pathology ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; complications ; genetics ; pathology ; Male ; Middle Aged ; Phenotype ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; genetics ; pathology ; Survival Rate

Objective To investigate the features of smog disease.Methods The clinical manifestations and inducements of smog disease patients were comprehensively analyzed by using clinical statistical methods.Results Smog disease mainly invaded young people.Smog disease was found mostly acute or subacute in onset.21 cases invaded internal carotid arterial system among these 30 patients,including infarction and cerebral hemorrhage;6 patients showed vertebral arterial signs,and 3 cases invaded both the two systems.Brain CT or MRI only showed the position of neurological disorder;The final diagnosis was made by DSA.Conclusion Smog disease could invade both the two systems of intracerebral artery,DSA is the best method to diagnose smog disease.