scholarly journals Lymphocytopenia predicts shortened survival in myelodysplastic syndrome with ring sideroblasts ( MDS‐RS ) but not in MDS / MPN‐RS‐T

2021 ◽  
Author(s):  
Abhishek A. Mangaonkar ◽  
Faiqa Farrukh ◽  
Kaaren K. Reichard ◽  
Rhett P. Ketterling ◽  
Naseema Gangat ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Ring Sideroblasts

Chronic Lymphocytic Leukemia Associated with Myelodysplastic Syndrome with Ring Sideroblasts

2010 ◽  
Vol 103 (8) ◽  
pp. 823-827 ◽  
Author(s):  
Khalil M. Charafeddine ◽  
Georges Y. Ibrahim ◽  
Rami A. Mahfouz ◽  
Ghazi S. Zaatari ◽  
Ziad M. Salem
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Myelodysplastic Syndrome ◽  
Lymphocytic Leukemia ◽  
Ring Sideroblasts

Clinical Utility of Multiparameter Flow Cytometry in the Diagnosis of 1013 Patients with Suspected Myelodysplastic Syndrome: Correlation to Cytomorphology, Cytogenetic, and Clinical Data.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 595-595
Author(s):  
Wolfgang Kern ◽  
Claudia Haferlach ◽  
Susanne Schnittger ◽  
Torsten Haferlach
Keyword(s):  
Flow Cytometry ◽  
Myelodysplastic Syndrome ◽  
Expression Pattern ◽  
Antigen Expression ◽  
Refractory Anemia ◽  
Multiparameter Flow Cytometry ◽  
Multilineage Dysplasia ◽  
Cytogenetic Aberrations ◽  
Ring Sideroblasts ◽  
Equity Ownership

Abstract Abstract 595 Diagnosis and classification of myelodysplastic syndromes (MDS) is based on cytomorpholgy (CM) and cytogenetics (CG). By the identification of MDS-related aberrant antigen expression multiparameter flow cytometry (MFC) may add important diagnostic information. Examples include an aberrant expression pattern of CD13 and CD16 in granulocytes, an aberrante expression pattern of HLA-DR and CD11b in monocytes and the expression of lymphoid markers on myeloid blasts (Haematologica 2009:94:1124). To evaluate the potential role of MFC in the diagnostic setting of MDS we analyzed 1013 cases with suspected MDS by CM, CG, and MFC in parallel. Cases were classified by CM as refractory anemia (RA, n=31, 3.1%), refractory anemia with ring sideroblasts (RARS, n=27, 2.7%), refractory cytopenia with multilineage dysplasia (RCMD, n=64, 6.3%), refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS, n=49, 4.8%), refractory anemia with excess of blasts 1 (RAEB-1, n=133, 13.1%), RAEB-2 (n=81, 8.0%), 5q- syndrome (n=24, 2.4%), chronic myelomonocytic leukemia (CMML, n=65, 6.4%), myelodysplastic syndrome unspecified (MDS-u, n=15, 1.5%), MDS borderline to acute myeloid leukemia (MDS/AML, n=6, 0.6%), MDS/myeloproliferative neplasia overlap (MDS/MPN, n=16, 1.6%), suspected MDS (n=225, 22.2%), reactive condition (n=266, 26.3%), and normal findings (n=11, 1.1%). Cytogenetic findings were normal karyotype (n=768, 75.8%), isolated deletion of long arm of chromosome 5 (del(5q), n=43, 4.2%), isolated aberrations of chromosome 7 (n=14, 1.4%), isolated trisomy 8 (n=30, 3.0%), isolated deletion of long arm of chromosome 20 (del(20q), n=21, 2.1%), complex karyotype (n=23, 2.3%), loss of Y-chromosome (n=43, 4.2%), other aberrations (n=71, 7.0%). Concordance between CM and MFC was 82.0% for diagnostic results in 788 cases with unequivocal CM. 277 of these 788 cases were classified by CM as not having MDS, 13 (4.7%) of which showed MDS-typical features by MFC. Additional 225 cases showed only minor dysplastic features by CM, 51 (22.7%) of which showed clear evidence of MDS by MFC. To further analyze the significance of MDS-related findings by MFC we then focused on cytogenetically aberrant cases without unequivocal MDS by CM. In 6/12 (50.0%) cases with no indication of MDS by CM and MDS-typical cytogenetic aberrations MFC revealed MDS characteristics. In another 11/23 (47.8%) cases with minor dysplastic features by CM and MDS-typical cytogenetic aberrations MFC revealed MDS characteristics. Furthermore, we compared blast counts as determined by CM and MFC and found a strong correlation (p<0.001) although the mean±SD percentage was higher as determined by CM as compared to MFC (4.67±4.18 vs. 3.78±2.97). Frequencies of aberrantly expressed antigens significantly differed between cases rated by CM as MDS (median number of aberrantly expressed antigens: 3), suspected MDS (1), and no MDS (0, p<0.001). In various cases MFC identified MDS-typical aberrant antigen expression in cell compartments not rated dysplastic by CM. Spearman rank correlation confirmed a highly significant relation between the number of aberrantly expressed antigens and IPSS (r=0.409, p<0.001). In 257 cases with data on overall survival (OS) the presence of MDS-related findings (≥3 aberrantly expressed antigens or a blast count >5% in MFC or a reduced side-scatter signal) resulted in significantly inferior 6-year-OS (68% vs. 100% p=0.008). The present analysis clearly demonstrates a diagnostic yield of MFC in addition to cytomorphology and cytogenetics in cases with suspected MDS. Disclosures: Kern: MLL Munich Leukemia Laboratory: Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Equity Ownership. Schnittger:MLL Munich Leukemia Laboratory: Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Equity Ownership.

scholarly journals Lenalidomide therapy in patients with myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)

2017 ◽  
Vol 93 (1) ◽  
pp. E27-E30 ◽  
Author(s):  
Maura Nicolosi ◽  
Mythri Mudireddy ◽  
Rangit Vallapureddy ◽  
Naseema Gangat ◽  
Ayalew Tefferi ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Myeloproliferative Neoplasm ◽  
Ring Sideroblasts

Outcome of lower-risk myelodysplastic syndrome with ring sideroblasts (MDS-RS) after failure of erythropoiesis- stimulating agents

2020 ◽  
Vol 99 ◽  
pp. 106472
Author(s):  
Sophie Park ◽  
Jean-François Hamel ◽  
Andrea Toma ◽  
Charikleia Kelaidi ◽  
Sylvain Thépot ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Lower Risk ◽  
Erythropoiesis Stimulating Agents ◽  
Ring Sideroblasts

Molecular Analysis of Myelodysplastic Syndrome with Isolated Del(5q) Reveals a Broad Spectrum of Clinically Relevant Mutations: A Study on 119 Patients and 26 Genes

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 4608-4608
Author(s):  
Manja Meggendorfer ◽  
Tamara Alpermann ◽  
Claudia Haferlach ◽  
Susanne Schnittger ◽  
Wolfgang Kern ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Myelodysplastic Syndrome ◽  
Specific Treatment ◽  
Gene Mutations ◽  
Gene Panel ◽  
Prognostic Impact ◽  
Treatment Needs ◽  
Employment Equity ◽  
Ring Sideroblasts ◽  
Equity Ownership

Abstract Introduction: The WHO category of “Myelodysplastic syndrome with isolated del(5q)” shows a good prognosis. It also demonstrates sensitivity for specific treatment such as lenalidomide. However, in some patients it evolves to secondary AML. Underlying pathobiological mechanisms are still under debate. Aim: To determine the frequency of mutations in a 26 gene panel and to investigate a mutation pattern combined with clinical data and prognostic information. Patients and Methods: We investigated 119 patients (85 female, 34 male) having MDS with isolated del(5q), strictly classified according to WHO classification 2008 with respect to cytomorphology and cytogenetics (blasts below 5% in the bone marrow and 5q deletion sole). All patients underwent molecular analyses by a myeloid gene panel containing ASXL1, BCOR, BRAF, CBL, DNMT3A, ETV6, EZH2, FLT3-TKD, GATA1, GATA2, IDH1, IDH2, JAK2, KIT, NRAS, KRAS, MPL, NPM1, PHF6, RUNX1, SF3B1, SRSF2, TET2, TP53, U2AF1, and WT1. The library was generated with the ThunderStorm (RainDance Technologies, Billerica, MA) and sequenced on a MiSeq instrument (Illumina, San Diego, CA). Results: Most patients harbored 1 mutation (60/119, 50%), while 2, 3, and 4 mutations per patient occurred less frequently (18/119, 15%; 2/119, 2%; and 1/119, 1%, respectively). In 38/119 patients (32%) no gene mutation was identified in addition to the del(5q). In the total cohort the most frequently mutated genes were DNMT3A and TP53 (21/119, 18% each), followed by SF3B1 (20/119, 17%), TET2 (14/119, 12%), ASXL1 (9/119, 8%), and JAK2 (7/119, 6%). Although these 6 gene mutations overlapped rarely and occurred frequently as sole mutations, they were not completely mutually exclusive. The mutation frequencies of all other analyzed genes were below 5%. Dividing the patients in groups defined by a bone marrow blast count of <2% and 2-5%, as described in IPSS-R, we could not detect any correlation to the mutation number per patient. However, patients that had no mutation were younger compared to patients with at least 1 mutation (70 vs. 76 years, p=0.009). But there was no difference between these 2 patient groups in white blood cell count, hemoglobin level, or platelet count. Taking single genes into account revealed that TP53 and SF3B1 mutations (mut) correlated with higher age (78 vs. 73 years, p=0.047; 78 vs. 73 years, p=0.050, respectively). Addressing the correlations of ring sideroblasts (RS) >15% and SF3B1mut showed that also in MDS with isolated del(5q) these two parameters significantly correlate with a mean of 19% RS (range: 0-80%) in SF3B1mut and only 1% RS in SF3B1 wildtype patients (wt; range: 0-12%, p<0.001). Looking at prognostic relevance of gene mutations surprisingly showed that SF3B1mut patients had a significantly worse outcome than SF3B1wt patients (median overall survival (OS) 31 vs. 91 months, p=0.008). Comparing the mutation frequency of TP53 in MDS with isolated del(5q) with all other MDS (Haferlach et al, Leukemia 2014) resulted in a significant higher mutation rate in MDS with isolated del(5q) (21/119 (18%) vs. 49/781 (6%), p<0.001). However, we did not find a prognostic impact of TP53mut in our cohort. Our patients were unselected and median OS was 91 months. Thus, our cohort may include a larger proportion of patients earlier in their clinical course compared to cohorts enrolled in treatment studies. Therefore the negative impact of TP53mut may become obvious later or even not before treatment needs to be started. Of note, 50% (60/119) of our patients were only under observation or received red blood cells or erythropoietin only. In contrast, an increasing number of gene mutations per patient showed a very strong trend towards a worse outcome with a median OS of 90 months in patients with no or 1 additional mutation in comparison to patients with more than 1 mutation (median OS: 36 months, p=0.061). Conclusion: 1) In myelodysplastic syndrome with isolated del(5q) the 5 most frequently mutated genes are comparable to all other MDS (Haferlach et al, Leukemia 2014). 2) In contrast, TP53 is more frequently mutated in MDS with isolated del(5q). 3) Ring sideroblasts >15% correlate with SF3B1mut. 4) SF3B1mut lead to significantly worse OS. 5) Increasing numbers of mutations show negative prognostic impact. Disclosures Meggendorfer: MLL Munich Leukemia Laboratory: Employment. Alpermann:MLL Munich Leukemia Laboratory: Employment. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Schnittger:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Kern:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership.

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