Cytogenetic Abnormalities Predict Disease Progression in Primary Myelodysplastic Syndrome: A Multicentric Study in 508 Chinese Patients.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 1451-1451
Author(s):  
Bing Chen ◽  
Wei-Li Zhao ◽  
Jie Jin ◽  
Yong-Quan Xue ◽  
Xin Cheng ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Poor Prognosis ◽  
Mononuclear Cells ◽  
Chinese Patients ◽  
Structural Abnormality ◽  
Multicentric Study ◽  
Cytogenetic Abnormalities ◽  
Chromosome Translocations ◽  
Cytogenetic Aberrations ◽  
Cell Disorder

Abstract Myelodysplastic syndrome (MDS) is a clonal stem cell disorder characterized by ineffective hematopoiesis and frequent leukemia progression. Cytogenetic abnormalities are presented in MDS patients and predict poor prognosis. To better define their relevance to clinical outcome in Chinese patients with primary MDS, cytogenetic analysis was performed in 508 cases and retrospectively compared with clinical data. The median age was 49 years which was 10 years younger than that of western patients. The median overall survival was 34 (range 1–161) months, with the 2-year and 5-year survival rate of 50.0% and 15.0%, respectively. Among 367 cases with evaluable karyotype in bone marrow mononuclear cells, cytogenetic abnormalities were found in 136 of them (37.1%), including 56 cases (15.3%) of numeric abnormality and 80 cases (21.8%) of structural abnormality. Higher incidence of cytogenetic abnormality was found in RAEB-T (43/86, 50.0%) and RAEB (44/106, 41.5%) patients than that of RA patients (38/143, 26.6%). RAEB and RAEB-T had more cases of non-hypodipoidy, double aberrations with translocation, and complex aberrations. In RA, the most frequent aberrations were duplication and numeric changes. This study also showed RAEB appears to be the course of MDS that genome turbulence was under the evolution pressure. In RAEB-T, the genome abnormalities tend to be uniform and behaved as special translocation, which is in accordance with the clinical behavior of AL. Poor prognosis and early leukemia transformation were observed in the patients with cytogenetic abnormalities, especially with complex cytogenetic aberrations and chromosome translocations. In conclusion, cytogenetic abnormalities possess strong predictive value on disease outcome in primary MDS patients.

scholarly journals High Incidence of Gastrointestinal Ulceration and Cytogenetic Aberration of Trisomy 8 as Typical Features of Behçet’s Disease Associated with Myelodysplastic Syndrome: A Series of 16 Consecutive Chinese Patients from the Shanghai Behçet’s Disease Database and Comparison with the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Yan Shen ◽  
Hai-Fen Ma ◽  
Dan Luo ◽  
Jian-Fei Cai ◽  
Jun Zou ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Chinese Patients ◽  
Trisomy 8 ◽  
Ileocecal Region ◽  
Behcet's Disease ◽  
Cytogenetic Aberration ◽  
Cytogenetic Aberrations

This study aimed to investigate the characteristics of Chinese patients with Behçet disease (BD) and myelodysplastic syndrome (MDS) and explore the role played by trisomy 8. This was a retrospective study of patients with BD and MDS from the Shanghai Behçet’s disease database who were diagnosed between October 2012 and July 2017. There were 805 patients with BD and 16 also had MDS. Trisomy 8 was examined in patients with BD-MDS and some patients with gastrointestinal (GI) BD. Patients with BD and MDS (16/805; 2%) were more likely to be female and older; display fever and intestinal lesions; have lower leukocyte count, hemoglobin, platelet count; and show higher C-reactive protein and erythrocyte sedimentation rate (ESR) than patients with BD without MDS (all P<0.05). Trisomy 8 was common (81.3%) in patients with BD-MDS. Ulcers in the ileocecal region were more frequently seen in intestinal patients with BD-MDS than in BD without MDS (90.0% versus 48.9%; P=0.032). GI ulceration is common in patients with BD-MDS. Cytogenetic aberrations, especially trisomy 8, may play a role in the pathogenesis of intestinal involvement in patients with BD-MDS.

scholarly journals The Cytogenetic Aberrations of Lymphoplasmacytic Lymphoma/ Waldenström's Macroglobulinemia in China

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 35-36
Author(s):  
Xiong Wenjie ◽  
Shuhua Yi ◽  
Huimin Liu ◽  
Tingyu Wang ◽  
Wei Liu ◽  
...  
Keyword(s):  
Clinical Features ◽  
Chromosome Abnormalities ◽  
Chinese Patients ◽  
Waldenström’S Macroglobulinemia ◽  
Cytogenetic Abnormalities ◽  
Cytogenetic Aberrations ◽  
Waldenstrom's Macroglobulinemia ◽  
Waldenstrom’S Macroglobulinemia ◽  
The Impact ◽  
Waldenström's Macroglobulinemia

Object:Lymphoplasmacytic lymphoma/ Waldenström's macroglobulinemia (LPL/WM) is a rare B-cell proliferative malignancy characterized by immunoglobulin M monoclonal gammopathy and /or bone marrow infiltration by lymphoplasmacytic cells. Recently, there are no large-scale studies to detect the clinical features, genetic background in patients with LPL/WM in China even Asia. The aim of this study is to explore the clinical and genetic differences, observe the impact of cytogenetic abnormalities on survival and prognosis in Chinese patients. Methods:305 patients with LPL/WM admitted in our hospital from June 1998 to December 2018 were retrospectively analyzed. Baseline characteristics, laboratory detection and therapy were compared using Chi-square test and Kaplan-Meier methodology was undertaken for survival analysis. Results:The median age of 305 patients in the study was 62 years (range 32-87) and male to female ratio was 2.45:1(216/89). The most common symptoms at diagnosis were fatigue (64.9%) and bleeding (14.1%).The patients in low, intermediate and high risk group of the international prognostic scoring system for WM (ISSWM) was 17.6%, 36.5% and 45.9%,respectively.The median hemoglobin was 8.5g/dl(range 2.4-18.7). About 41.3% patients had IgM higher than 4000mg/dl. The cytogenetic abnormalities were uncommon in LPL/WM patients. The chromosomal karyotypes were successful in 194 cases, of which 20 patients showed clonal abnormalities. 12 patients had two or more chromosome abnormalities. The most common chromosome abnormalities were deletion 6/6q(25%) and Y chromosome loss (20%). The median progression-free survival (PFS) and overall survival (OS) in patients with normal and abnormal chromosome karyotypes were similar. 194 patients had FISH detection, of which 33 patients (17%) had FISH abnormalities, 9 (4.6%) patients had two kind of abnormalities. The patients with more than one cytogenetic abnormality had lower survival than just had one abnormality or normal patients. The most common aberrations were 6q deletion and trisomy 12. 17p deletion was detected in 11 patients (11/184,6.0%) and it was a poor prognostic marker of PFS and OS. Single 13q14 deletion had not impact on PFS or OS, but when companied with other cytogenetic aberration, it could worsen the PFS and OS . Besides related to survival, cytogenetic abnormal was also related to the clinical features. Conclusions:Despite the low incidence and abnormal cytogenetic detection rate of LPL/WM, the clinical and genetic features are unique in Chinese patients. The cytogenetic aberrations play an important role in predicting prognosis. Disclosures No relevant conflicts of interest to declare.

Detection and Functional Evaluation of −262A/T and −188A/G Polymorphisms of SLAM Gene in Patients with Systemic Lupus Erythematosus

2010 ◽  
Vol 37 (11) ◽  
pp. 2268-2272 ◽  
Author(s):  
YI YOU ◽  
ZHE WANG ◽  
GUO-HONG DENG ◽  
YI LIU ◽  
FEI HAO
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Mononuclear Cells ◽  
Gene Promoter ◽  
Chinese Patients ◽  
Luciferase Reporter ◽  
Functional Evaluation ◽  
Reporter System ◽  
Systemic Lupus ◽  
Peripheral Blood Mononuclear

Objective.Signaling lymphocytic activation molecule (SLAM) has been related to the pathology of systemic lupus erythematosus (SLE) through regulation of T cell-dependent humoral immune responses. We investigated the functional associations of the −262A/T and −188A/G polymorphisms of SLAM in Chinese patients with SLE.Methods.Genotyping of −262A/T (rs2295614) and −188A/G (rs2295613) in SLAM was carried out in 248 cases and 278 controls. Promoter activities of haplotypes on the SLAM gene were evaluated with the dual-luciferase reporter system. The mRNA expressions of SLAM on peripheral blood mononuclear cells (PBMC) of SLE patients with different genotypes were determined by real-time polymerase chain reaction.Results.Frequencies of −262A allele and −188G allele were significantly higher in SLE patients than in controls. Haplotype analysis and multifactorial logistic regression analysis showed that individuals with the AG/AG haplotype had increased susceptibility to SLE (p = 0.002, OR 1.478, 95% CI 1.152–1.897). In response to PHA stimulation, the SLAM mRNA expression on PBMC of SLE patients was significantly higher in −262A-188G haplotype homozygotes compared with −262A-188G heterozygotes and individuals with other genotypes.Conclusion.Our findings suggest that −262A-188G haplotype in the SLAM gene promoter contributes to the risk of SLE by increasing the expression of SLAM.

scholarly journals N-ras mutations are associated with poor prognosis and increased risk of leukemia in myelodysplastic syndrome

Blood ◽  
1993 ◽  
Vol 82 (2) ◽  
pp. 590-599 ◽  
Author(s):  
RL Paquette ◽  
EM Landaw ◽  
RV Pierre ◽  
J Kahan ◽  
M Lubbert ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Myelodysplastic Syndrome ◽  
Poor Prognosis ◽  
Polymerase Chain Reaction Amplification ◽  
Myelogenous Leukemia ◽  
Survival Period ◽  
Ras Mutation ◽  
Ras Mutations ◽  
Increased Risk ◽  
Oligonucleotide Hybridization

To evaluate the clinical significance of N-ras mutations in the myelodysplastic syndrome (MDS) archival bone marrow samples from 252 patients were studied for the presence of N-ras exon I mutations using polymerase chain reaction amplification and differential oligonucleotide hybridization. Subsequently, clinical information about these patients was obtained and analyzed. Of 220 evaluable patients, 20 (9%) had point mutation of N-ras involving codon 12. Individuals with N- ras mutation had a significantly shorter survival period than those who were N-ras negative (P = .02). An increased risk of acute myelogenous leukemia (AML) was also found in patients with N-ras mutations (P = .005). N-ras mutations were not associated with any French-American- British (FAB) subtype, with the presence of increased myeloblasts, or with chromosomal aberrations in the bone marrow. However, the presence of increased bone marrow blasts was strongly associated with poor survival rate and risk of AML (P < .001 for each). After stratifying for the percentage of blasts, N-ras mutations remained significantly associated with shorter survival period (P = .04) and increased risk of AML (P = .02). Bone marrow cytogenetic abnormalities, particularly when multiple abnormalities were present, were significantly associated with a poor prognosis (P < .001). In conclusion, N-ras mutation, although relatively infrequent in MDS, is associated with short survival period and increased probability of developing AML.

scholarly journals Clinico-Hematological and cytogenetic spectrum of adult myelodysplastic syndrome The first retrospective cross-sectional study in Iranian patients

2021 ◽  
Author(s):  
Mostafa Paridar ◽  
Kazem Zibara ◽  
Seyed Esmaeil Ahmadi ◽  
Abbas Khosravi ◽  
Maral Soleymani ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Cross Sectional Study ◽  
Cytogenetic Abnormality ◽  
Sectional Study ◽  
Trisomy 8 ◽  
Cross Sectional ◽  
Iron Storage ◽  
Monosomy 7 ◽  
Female Ratio ◽  
Cytogenetic Abnormalities

Abstract Background Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different populations and geographic areas. Herein, we determined the cytogenetic spectrum and clinico-hematological features of Iranian MDS patients for the first time. Methods This prospective cross-sectional study was conducted on 103 patients with MDS in Ahvaz, southwest of Iran, from 2014 to 2018. Clinical presentations, complete blood counts (CBC), and bone marrow (BM) biopsy samples were assessed. Perls' staining was used to evaluate BM iron storage. The cytogenetic evaluation was performed using the conventional G banding method on the BM. Results Patients’ median age was 62.3 (ranged from 50–76), and the majority were male (72.8%). The most common clinical symptom at the time of admission was fatigue (n = 33) followed by pallor (n = 27). The most common subgroup was MDS-Multi Lineage Dysplasia (MDS-MLD) (n = 38, 36.8%), followed by MDS-Single Lineage Dysplasia (MDS-SLD) (n = 28, 18.4%). A normal karyotype was observed in 59 patients (57.3%), while 44 patients (42.7%) had cytogenetic abnormalities. Trisomy 8 (+ 8) was the most common cytogenetic abnormality (n = 14) followed by dell 17p (n = 9) and monosomy 7 (-7) (n = 7). Twelve patients (11.65 %) were transformed to AML. Conclusion Our data betokened that among our MDS patients, Trisomy 8 is the predominant cytogenetic abnormality, and MDS-MLD and MDS-SLD are the most common of subtypes. Noteworthy, the male: female ratio was slightly higher in Iran than in previous reports from other parts of the world. Our study is the first report of the clinical, hematological, and cytogenetic spectrum of MDS patients in Iran

The increased expression of TCF3 is correlated with poor prognosis in Chinese patients with nasopharyngeal carcinoma

2017 ◽  
Vol 42 (4) ◽  
pp. 824-830 ◽  
Author(s):  
X. Shen ◽  
J. Yuan ◽  
M. Zhang ◽  
W. Li ◽  
B. Ni ◽  
...  
Keyword(s):  
Nasopharyngeal Carcinoma ◽  
Poor Prognosis ◽  
Chinese Patients

Cytogenetic abnormalities in couples with a history of primary and secondary recurrent miscarriage: a Brazilian Multicentric Study

2018 ◽  
Vol 33 (3) ◽  
pp. 442-448 ◽  
Author(s):  
Marcelo Borges Cavalcante ◽  
Manoel Sarno ◽  
Gabriela Gayer ◽  
Joanna Meira ◽  
Marla Niag ◽  
...  
Keyword(s):  
Recurrent Miscarriage ◽  
Multicentric Study ◽  
Cytogenetic Abnormalities ◽  
History Of

HLA Alleles and Prognosis of PLA2R-Related Membranous Nephropathy

2021 ◽  
pp. CJN.18021120
Author(s):  
Wei-Bo Le ◽  
Jingsong Shi ◽  
Fan Yang ◽  
Si-Wen Gong
Keyword(s):  
Membranous Nephropathy ◽  
Prospective Cohort ◽  
Poor Prognosis ◽  
Significant Risk ◽  
Chinese Patients ◽  
Hla Alleles ◽  
Cox Analysis ◽  
Antibody Levels ◽  
Egfr Decline

Background and objectives Associations between HLA alleles and susceptibility to PLA2R-related membranous nephropathy have been well defined previously in Chinese patients. However, the relationships between HLA alleles and kidney outcome remain unclear. Design, setting, participants, & measurements Five HLA genes (DRB1, DQA1, DQB1, DRB3, and DRB5) were genotyped in a prospective cohort of 392 patients with PLA2R-related membranous nephropathy. The associations between HLA alleles and kidney outcomes were studied. Results A total of 79 HLA alleles were identified in this study. Four HLA alleles, DRB1*13:01 (n=12, HR 3.7, 95% CI 1.8 - 7.8, P < 0.001) , DQB1*06:03 (n=12, HR 3.7, 95% CI 1.8 - 7.8, P < 0.001), DRB1*04:05 (n=12, HR 3.8，95% CI 1.5 - 9.5, P = 0.004) and DQB1*03:02 (n=21, HR 3.1，95% CI 1.4 - 6.7, P = 0.005), were associated with a ≥ 40% eGFR decline during follow-up. DRB1*13:01 and DQB1*06:03 were tightly linked with each other. Forty-four of the 392 patients (11%) carried at least one of the four identified risk HLA alleles in this study. Compared with patients who were negative for all risk HLA alleles, those carrying at least one risk HLA allele had a significant risk of a ≥ 40% eGFR decline during follow-up (HR 3.9, 95% CI 2.3 - 6.7, P < 0.001). After adjusting for age, sex, proteinuria, albumin, eGFR, and anti-PLA2R antibody levels, multivariable Cox analysis showed that patients carrying any of the four risk HLA alleles remained associated with a higher risk of a ≥40% decline in eGFR (HR 4.1, 95% CI 2.3 - 7.1, P < 0.001). Conclusions Carrying any of the HLA alleles, DRB1*13:01/DQB1*06:03, DRB1*04:05 and DQB1*03:02, was independently associated with poor prognosis in Chinese patients with PLA2R-related membranous nephropathy.

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