Braulke Friederike, Platzbecker Uwe, Müller-Thomas Catharina, Götze Katharina, Germing Ulrich, Brümmendorf Tim H, Nolte Florian, Hofmann Wolf-Karsten, Giagounidis Aristoteles A N, Lübbert Michael, Greenberg Peter L, Bennett John M, Solé Francesc, Mallo Mar, Slovak Marilyn L, Ohyashiki Kazuma, Le Beau Michelle M, Tüchler Heinz, Pfeilstöcker Michael, Nösslinger Thomas, Hildebrandt Barbara, Shirneshan Katayoon, Aul Carlo, Stauder Reinhard, Sperr Wolfgang R, Valent Peter, Fonatsch Christa, Trümper Lorenz, Haase Detlef, Schanz Julie
Department of Hematology and Medical Oncology, University Medicine of Goettingen, Germany
Department of Hematology and Oncology, University of Dresden, Germany.
Haematologica. 2015 Feb;100(2):205-13. doi: 10.3324/haematol.2014.110452. Epub 2014 Oct 24.
International Prognostic Scoring Systems are used to determine the individual risk profile of myelodysplastic syndrome patients. For the assessment of International Prognostic Scoring Systems, an adequate chromosome banding analysis of the bone marrow is essential. Cytogenetic information is not available for a substantial number of patients (5%-20%) with dry marrow or an insufficient number of metaphase cells. For these patients, a valid risk classification is impossible. In the study presented here, the International Prognostic Scoring Systems were validated based on fluorescence in situ hybridization analyses using extended probe panels applied to cluster of differentiation 34 positive (CD34(+)) peripheral blood cells of 328 MDS patients of our prospective multicenter German diagnostic study and compared to chromosome banding results of 2902 previously published patients with myelodysplastic syndromes. For cytogenetic risk classification by fluorescence in situ hybridization analyses of CD34(+) peripheral blood cells, the groups differed significantly for overall and leukemia-free survival by uni- and multivariate analyses without discrepancies between treated and untreated patients. Including cytogenetic data of fluorescence in situ hybridization analyses of peripheral CD34(+) blood cells (instead of bone marrow banding analysis) into the complete International Prognostic Scoring System assessment, the prognostic risk groups separated significantly for overall and leukemia-free survival. Our data show that a reliable stratification to the risk groups of the International Prognostic Scoring Systems is possible from peripheral blood in patients with missing chromosome banding analysis by using a comprehensive probe panel (clinicaltrials.gov identifier:01355913).
国际预后评分系统用于确定骨髓增生异常综合征患者的个体风险状况。对于国际预后评分系统的评估，对骨髓进行充分的染色体显带分析至关重要。对于大量骨髓穿刺干抽或中期细胞数量不足的患者（5%-20%），无法获得细胞遗传学信息。对于这些患者，无法进行有效的风险分类。在本研究中，基于荧光原位杂交分析对国际预后评分系统进行了验证，使用扩展探针组对我们前瞻性多中心德国诊断研究中的328例骨髓增生异常综合征患者的分化簇34阳性（CD34(+)）外周血细胞进行检测，并与之前发表的2902例骨髓增生异常综合征患者的染色体显带结果进行比较。通过对CD34(+)外周血细胞进行荧光原位杂交分析进行细胞遗传学风险分类，单因素和多因素分析显示，各亚组在总生存期和无白血病生存期方面存在显著差异，治疗组和未治疗组之间无差异。将外周CD34(+)血细胞荧光原位杂交分析的细胞遗传学数据（而非骨髓显带分析）纳入完整的国际预后评分系统评估中，预后风险亚组在总生存期和无白血病生存期方面有显著区分。我们的数据表明，对于染色体显带分析缺失的患者，通过使用综合探针组，从外周血中对国际预后评分系统的风险亚组进行可靠分层是可行的（临床试验.gov标识符：01355913）。
