Cremers Eline M P, Westers Theresia M, Alhan Canan, Cali Claudia, Wondergem Mariëlle J, Poddighe Pino J, Ossenkoppele Gert J, van de Loosdrecht Arjan A
Department of Hematology, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
Department of Clinical Genetics, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
Eur J Cancer. 2016 Feb;54:49-56. doi: 10.1016/j.ejca.2015.11.013. Epub 2015 Dec 22.
Mandatory for the diagnosis of myelodysplastic syndromes (MDS) is the presence of dysplasia in >10% of cells within one or more cell lineages or presence of >15% ring sideroblasts or presence of MDS-associated cytogenetic (CG) abnormalities. Discrimination between neo-plastic and non-neoplastic causes of cytopenias can be challenging when dysplastic features by cytomorphology (CM) are minimal and CG abnormalities are absent or non-discriminating from other myeloid neoplastic disorders. This study evaluated a standard diagnostic approach in 379 patients with unexplained cytopenias and highlights the additional value of flow cytometry (FC) in patients with indeterminate CM and CG. CM reached no clear-cut diagnosis in 44% of the patients. Here, CG was able to identify two additional patients with MDS; other CG results did not reveal abnormalities or were not contributory. Based on the FC results, patients without a diagnosis by CM and CG were categorized 'no MDS-related features' (65%), 'limited number of MDS-related changes' (24%), and 'consistent with MDS' (11%). Patients were followed over time in an attempt to establish or confirm a diagnosis (median follow-up 391 d, range 20-1764). The specificity (true negative) of MDS-FC analysis calculated after follow-up was 95%. FC can aid as a valuable tool to exclude MDS when CM and additional CG are not conclusive in patients with cytopenia.
骨髓增生异常综合征（MDS）诊断的必备条件是一个或多个细胞系中>10%的细胞存在发育异常，或存在>15%的环形铁粒幼细胞，或存在MDS相关的细胞遗传学（CG）异常。当细胞形态学（CM）显示的发育异常特征轻微且不存在CG异常或与其他髓系肿瘤性疾病无法区分时，鉴别血细胞减少的肿瘤性和非肿瘤性病因可能具有挑战性。本研究评估了379例不明原因血细胞减少患者的标准诊断方法，并强调了流式细胞术（FC）在CM和CG结果不确定的患者中的附加价值。44%的患者CM未得出明确诊断。在此，CG能够额外识别出2例MDS患者；其他CG结果未显示异常或无诊断价值。根据FC结果，CM和CG未确诊的患者被分类为“无MDS相关特征”（65%）、“MDS相关改变数量有限”（24%）和“符合MDS”（11%）。对患者进行长期随访以建立或确认诊断（中位随访391天，范围20 - 1764天）。随访后计算的MDS - FC分析的特异性（真阴性）为95%。当CM和额外的CG对血细胞减少患者的诊断不明确时，FC可作为排除MDS的有价值工具。
