Myelodysplastic Syndromes: Cytogenetic Anomalies and Their Clinical Significance

1992 ◽  
pp. 165-177
Author(s):  
A. A. Sandberg ◽  
B. Wullich
Keyword(s):  
Clinical Significance ◽  
Myelodysplastic Syndromes

scholarly journals Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes

2021 ◽  
Vol 10 (5) ◽  
pp. 1759-1771
Author(s):  
Xuefen Yan ◽  
Lu Wang ◽  
Lingxu Jiang ◽  
Yingwan Luo ◽  
Peipei Lin ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Myelodysplastic Syndromes ◽  
Molecular Genetic ◽  
Chinese Patients ◽  
Genetic Abnormalities

Incidence and Clinical Significance of PNH clone in Myelodysplastic Syndromes

2003 ◽  
pp. 139-148 ◽  
Author(s):  
Masao Tomonaga ◽  
Masako Iwanaga ◽  
Kengo Fuchigami ◽  
Yoriko Inoue ◽  
Tatsuro Joh ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Myelodysplastic Syndromes ◽  
Pnh Clone

scholarly journals Clinical significance ofTFR2andEPORexpression in bone marrow cells in myelodysplastic syndromes

2016 ◽  
Vol 176 (3) ◽  
pp. 491-495 ◽  
Author(s):  
Augusta Di Savino ◽  
Valentina Gaidano ◽  
Antonietta Palmieri ◽  
Francesca Crasto ◽  
Alessandro Volpengo ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Clinical Significance ◽  
Myelodysplastic Syndromes ◽  
Bone Marrow Cells ◽  
Marrow Cells

Prognostic Implications Of PRAME Expression Levels In Myelodysplastic Syndromes

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 2814-2814
Author(s):  
Masayuki Shiseki ◽  
Mayuko Ishii ◽  
Kenjiro Mitsuhashi ◽  
Norina Tanaka ◽  
Kentaro Yoshinaga ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Overall Survival ◽  
Clinical Outcomes ◽  
Clinical Significance ◽  
Myelodysplastic Syndromes ◽  
Biological Significance ◽  
High Expression ◽  
Expression Level ◽  
High Expression Group ◽  
Low Expression

Abstract The preferentially expressed antigen of the melanoma (PRAME) gene was first identified in melanoma tissue as a tumour-associated antigen recognized by autologous cytotoxic T cells against a melanoma surface antigen. While expression level of PRAME is quite low in most of normal tissues of human, including bone marrow normal CD34+ cells, except for testis, PRAME overexpression is observed in various human cancers, including hematological malignant disorders. Although clinical and biological significance of PRAME expression in human cancers has not been fully elucidated, it has been demonstrated that high PRAME expression is associated poor clinical outcomes in a number of solid cancers. Association between PRAME expression and clinical outcomes in hematological malignancies has not been clarified. In acute myeloid leukemia, high expression of PRAME was shown to be associated with worse progression-free survival or overall survival by some research groups but not by other groups. Our previous study demonstrated that inhibition of PRAME expression in leukemic cells results in cell cycle arrest and induction of apoptosis, suggesting oncogenic function of PRAME expression in leukemogenesis. Clinical significance of PRAME expression in myelodysplastic syndromes (MDS) also has not been fully elucidated. In the present study, we examined PRAME expression of bone marrow cells in MDS patients to clarify clinical significance of PRAME expression. Bone marrow samples of MDS patients were used for analysis. Samples were taken at the time of diagnosis with written informed consent from patients. Total RNA extraction, cDNA synthesis and quantitative real-time RT-PCR by the TaqMan probe method using an ABI 7500 real-time PCR system (Applied Biosystems) with co-amplification of the endogenous control gene, human GAPDH (Applied Biosystems), were performed. Expression levels were obtained using the standard curve method in each experiment, after normalization with the GAPDH gene for each sample in duplicate wells. The human PRAME primer-probe sets were from Applied Biosystems (assay ID: Hs00196132_m1). Data including patients’ demographic, disease status, medical history, clinical and laboratory findings, and outcome, were collected from medical records and laboratory data base. A total of 111 MDS patients, 68 males and 43 females with median age of 69 years (range: 20-91 years) were included in the present study. They were classified as RCUD (n=15), RCMD (n=61), RARS (n=8), RAEB-1 (n=15), and RAEB-2 (n=12) according to WHO classification. Based on the IPSS, they were categorized in four risk groups, low risk (n=29), intermediate-1 risk (n=55), intermediate-2 risk (n=23), and high risk(n=4). Expression level of PRAME was varied among the MDS patients analyzed. Median value of relative PRAME expression level of 111 MDS patients and that of 19 control subjects were 0.073 and 0.07, and there was no significant difference in distribution of expression level of PRAME. However, when we compared expression patterns of PRAME among five WHO-subtypes, statistical difference was observed (P=0.0116). Relative PRAME expression level in WHO-subtypes with high blast counts (RAEB-1 and RAEB-2) was significantly higher than that in WHO-subtypes with less blast counts (RCUD, RCMD, RARS) (median value: 0.44 vs. 0.05, P=0.0012). To investigate prognostic implication of PRAME expression in MDS, we analyzed impact of PRAME expression on overall survival (OS). Based on PRAME expression level, 111 patients were divided into two categories, ‘high expression group’ (above median value) and ‘low expression group’ (below median value). Kaplan-Meier analysis demonstrated that high expression group showed significantly poorer overall survival than low expression group (P=0.0165). The estimated 5-year OS rates in high expression group and low expression group were 63.5% and 78.4%, respectively. The present study demonstrated that high PRAME expression is associated with poorer clinical outcome, indicating that PRAME expression could be a useful prognostic marker in MDS. Biological significance of PRAME expression in MDS is unclear. Expression level of PRAME was higher in WHO-subtypes with high blasts counts, suggesting that PRAME may play role in disease progression in MDS. Further studies should be necessary to clarify clinicopathological and biological significance of PRAME expression in MDS. Disclosures: No relevant conflicts of interest to declare.

Clinical Significance of Cytogenetic Manifestations in Myelodysplastic Syndromes

2013 ◽  
Vol 44 (2) ◽  
pp. 103-107
Author(s):  
Shyamala C. Navada ◽  
Allison Chatalbash ◽  
Lewis R. Silverman
Keyword(s):  
Clinical Significance ◽  
Myelodysplastic Syndromes

scholarly journals Isolate Loss of Y Chromosome Decreases the Risk of Leukemic Transformation in the Myelodysplastic Syndromes. a Study By the Spanish Group of Myelodysplastic Syndromes

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 4331-4331
Author(s):  
Meritxell Nomdedeu ◽  
Arturo Pereira ◽  
Xavier Calvo ◽  
Joan Colomer ◽  
Amparo Arias ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Clinical Significance ◽  
Myelodysplastic Syndromes ◽  
Normal Karyotype ◽  
Related Phenomenon ◽  
Prognostic Impact ◽  
Leukemic Transformation ◽  
Chromosome Y ◽  
Male Patients

Abstract Background Loss of chromosome Y (-Y) is observed in 4-10% of male MDS patients as a single cytogenetic abnormality, and is associated to a better outcome. -Y is also known to be an age related phenomenon occurring in 8-10% of elderly men. The clinical significance of -Y in MDS has been a matter of discussion. However, there is increasing evidence that -Y involves the clonal population in MDS cases, and is more likely to be associated with a hematological malignancy when it involves a greater number of metaphases. Aims In this study we aimed to 1) analyze the prognostic impact of -Y in the context of the IPSS-R cytogenetic classification, 2) evaluate the clinical significance of the percentage of metaphases with isolated -Y, 3) test whether finding -Y may predispose to over diagnose MDS in patients with borderline morphological features. Methods We evaluated 3581 male patients from the Spanish Registry of MDS with a diagnosis of MDS or CMML (WHO 2001). Patients with isolated -Y and normal karyotype by conventional cytogenetic analysis were selected. The main study outcomes were survival from diagnosis and transformation into acute myeloid leukemia (AML). Survival curves were drawn using the Kaplan-Meyer method and compared by log-rank test. The cumulative incidence of AML was estimated by taking non AML-related death as a competing risk. Statistical comparisons were done by the Mann-Whitney U-test for continuous data, and the chi-square test for categorical factors. Stata, version 11, software (www.stata.org) was used for the statistical analysis. Results Isolated -Y was identified in 177 patients (-Y group) and compared with the 2246 male patients with normal karyotype (46,XY group). The median age for the whole series was 74 years old (IQR 67-80). -Y patients were found to be older than patients in the 46,XY group with a median (IQR) of 78 (74-83) versus 74 (66-79) years old, respectively (n=0.0001). There was no difference between both groups in terms of hemoglobin concentration, neutrophil and platelet counts at diagnosis. Percentage of bone marrow (BM) blasts was significantly lower in the -Y group (median (IQR): 2(0-3) vs. 2(1-5), respectively; p=0.003). Differences in distribution by WHO 2001 classification of MDS were not found between the two groups. After a follow-up of 2,190 patient-years, 1684 (69.5%) patients had died and the median actuarial survival was 3.6 years (95% C.I, 3.3-3.9). A trend towards a larger median survival in the -Y group versus 46,XY group was observed, since it not reached statistical significance (5.2 years [95% CI, 3.89 to 6.40] versus 4.26 years [95% CI, 3.89 to 4.59], respectively) (P=0. 17; Fig. 1A). After a median follow-up of 1.6 years (IQR: 0.8 - 3.7) from MDS diagnosis, 296 patients had progressed to AML, 901 had died without AML, and 1224 were censored alive without transformation. -Y was associated with a decreased incidence of AML at univariate analysis (figure 1B), and after adjustment for the percentage of BM blasts (SHR: 0.46; 95%CI: 0.24-0.88; p=0.02). Within the -Y group, neither survival nor the risk of leukemic transformation were influenced by the percentage of aberrant metaphases (>75% vs, ≤ 75%). From the whole series, only 6.4% of the cases were classified as not having a "MDS strong phenotype", defined by the presence of megakaryocytic dysplasia, more than 5% blasts in the bone marrow, or more than 15% ring sideroblasts. These cases were uniformly distributed between the two groups, suggesting that the better outcome in the -Y group cannot be explained by enrichment in cases misdiagnosed as MDS. Conclusions Our results derived from the largest series of patients with loss of chromosome Y support the current recommendation of classifying patients with -Y within the very good risk category of the IPSS-R for MDS and rule out a selection bias as a possible explanation of this better outcome. An analysis of the molecular basis of MDS with isolated -Y would be of interest as it may provide a biological basis of protection against AML progression. Disclosures No relevant conflicts of interest to declare.

scholarly journals DIAGNOSTIC APPLICATION AND CLINICAL SIGNIFICANCE OF FCM WELLS SCORING SYSTEM IN MYELODYSPLASTIC SYNDROMES

2021 ◽  
Vol 43 ◽  
pp. S26
Author(s):  
Reyhan Aliyeva ◽  
Agarza Aghayev ◽  
Adam Najafli ◽  
Reyhan Tagizade ◽  
Azer Kerimov
Keyword(s):  
Clinical Significance ◽  
Myelodysplastic Syndromes ◽  
Scoring System ◽  
Diagnostic Application
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