Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31

Giagounidis, Aristoteles; Germing, Ulrich; Haase, Sabine; Hildebrandt, Barbara; Schlegelberger, Brigitte; Schoch, Claudia; Wilkens, Ludwig; Heinsch, Michael; Willems, Huub P. J.; Aivado, Manuel; Aul, Carlo

doi:10.1038/sj.leu.2403189

Cited by 187 publications

(143 citation statements)

References 12 publications

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“…The prognosis is favorable with relatively low risk of transformation to AML [9;10] but the dependence on red blood cell (RBC) transfusions often has a negative effect on morbidity and mortality [10].…”

Section: Discussionmentioning

confidence: 99%

Cost of transfusion-dependent myelodysplastic syndrome (MDS) from a German payer’s perspective

et al. 2010

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Background: No curative treatment exists for patients with myelodysplastic syndrome (MDS) besides allogeneic stem cell transplantation. Hence, palliative treatment is provided for a life time accruing high health care cost. As no cost study of MDS exists in Germany, the objective of this study was to assess and analyse costs of transfusion-dependent low/intermediate-1 risk MDS in Germany from a payers' perspective. Patients and methods: 116 low/intermediate-1 risk transfusion-dependent MDS patients with and without isolated 5q-deletion from seven centers were identified. Claims data and patient records of the previous five years were used to collect health care utilization data retrospectively. Publicly available tariff books and remuneration schemes were applied to evaluate mean costs per year in Euro with 2007 as base year. Results: The annual cost of MDS patients was estimated at €14,883. Subgroup analyses showed differences in patient's characteristics and outcomes among patients treated at a hospital based versus an office based setting. Patients treated at the hospital based registry show higher cost where as the reasons for that still need to be detected. Overall per annum direct costs range from €12,543 (SD 12,967) to €24,957 (SD 36,399) in different subgroups of patients. In both groups, patients with 5q-deletion use more medication than those without deletion. Mean costs for medication in the office based setting are €5,902 for patients with isolated 5q-deletion vs. €3,932 with no deletion, respectively. Conclusion: MDS leads to a high health care utilization and resulting costs for the health care system which requires a detailed analysis of underlying services.Response to Reviewers: For reasons of a better outline, we decided to respond to your comments in a word document which is attached. Response to reviewer's comments Reviewer's comments ResponsesReviewer #1:In this retrospective study, the authors have evaluated the annual cost of MDS transfused patients in Germany. They stated that patients with 5q-deletion used significantly more resources and especially more medication than those without deletion. This paper raise two majors Criticisms : -1st. The way the data were retrospectively collected raise some issues.In fact the authors compared MDS and del5q but the collection of data were rather different in the two groups and this might also (in part) explain the difference observed in the two groups.Thank you for raising this point. We are aware of this limitation and tried to point it out in the discussion. As this was addressed as a major point by the first reviewer we decided that the respective section needed a revision, which we did in the results and discussion section.To further address this point that was also raised by the editor we conducted additional analyses of the data and present results for the center 7 (MDS registry at a university) separately in a new table 3. By this the differences in data collection and composition of the respective cohorts can be reflected. The fi...

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Section: Discussionmentioning

confidence: 99%

Cost of transfusion-dependent myelodysplastic syndrome (MDS) from a German payer’s perspective

et al. 2010

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“…This is in agreement with the well-known female predominance of '5q-syndrome'. 33 In nine cases, which were referred with the cytologic diagnosis of '5q-syndrome' without evidence of 5q-by cytogenetics, the 5q deletion was detected by FISH. In these cases, FISH helped to make the definitive diagnosis, which must be based on the presence of the cytogenetic anomaly.…”

Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-

Mallo¹,

Arenillas²,

Espinet³

et al. 2008

Haematologica

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BackgroundMore than 50% of patients with myelodysplastic syndromes present cytogenetic aberrations at diagnosis. Partial or complete deletion of the long arm of chromosome 5 is the most frequent abnormality. The aim of this study was to apply fluorescence in situ hybridization of 5q31 in patients diagnosed with de novo myelodysplastic syndromes in whom conventional banding cytogenetics study had shown a normal karyotype, absence of metaphases or an abnormal karyotype without evidence of del(5q). Design and MethodsWe performed fluorescence in situ hybridization of 5q31 in 716 patients, divided into two groups: group A patients (n=637) in whom the 5q deletion had not been detected at diagnosis by conventional banding cytogenetics and group B patients (n=79), in whom cytogenetic analysis had revealed the 5q deletion (positive control group). ResultsIn group A (n=637), the 5q deletion was detected by fluorescence in situ hybridization in 38 cases (5.96%). The majority of positive cases were diagnosed as having the 5q-syndrome. The deletion was mainly observed in cases in which the cytogenetics study had shown no metaphases or an aberrant karyotype with chromosome 5 involved. In group B (n=79), the 5q deletion had been observed by cytogenetics and was confirmed to be present in all cases by fluorescence in situ hybridization of 5q31. ConclusionsFluorescence in situ hybridization of 5q31 detected the 5q deletion in 6% of cases without clear evidence of del(5q) by conventional banding cytogenetics. We suggest that fluorescence in situ hybridization of 5q31 should be performed in cases of a suspected '5q-syndrome' and/or if the cytogenetic study shows no metaphases or an aberrant karyotype with chromosome 5 involved (no 5q-chromosome).

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“…These findings are consistent with Egr-1 behaving as a tumor suppressor against two oncogenes, each preventing myeloid differentiation by a different mechanism. Interestingly, the human EGR-1 gene was localized to the q region of chromosome 5, where either deletion or monosomy is frequently observed in patients Egr-1 abrogates E2F-1 block on differentiation JD Gibbs et al with myelodysplastic syndromes or acute myeloid leukemia (Bram et al, 2004;Giagounidis et al, 2004). It would be worthwhile to assess Egr-1 expression in patients with either myelodysplasia or AML at time of diagnosis and during the course of treatment, and to correlate these expression levels to outcome.…”

Section: Discussionmentioning

confidence: 99%

Egr-1 abrogates the E2F-1 block in terminal myeloid differentiation and suppresses leukemia

2007

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Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31

Cited by 187 publications

References 12 publications

Cost of transfusion-dependent myelodysplastic syndrome (MDS) from a German payer’s perspective

Cost of transfusion-dependent myelodysplastic syndrome (MDS) from a German payer’s perspective

Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-

Egr-1 abrogates the E2F-1 block in terminal myeloid differentiation and suppresses leukemia

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