Refractory cytopenia with multilineage dysplasia: further characterization of an 'unclassifiable' myelodysplastic syndrome.
Refractory cytopenia with multilineage dysplasia: further characterization of an 'unclassifiable' myelodysplastic syndrome.
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发表时间：
1996
期刊：
影响因子：
11.4
通讯作者：
S. Rosati;R. Mick;F. Xu;E. Stonys;M. L. Beau;R. Larson;J. Vardiman
中科院分区：
文献类型：
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作者：
S. Rosati;R. Mick;F. Xu;E. Stonys;M. L. Beau;R. Larson;J. Vardiman
骨髓增生异常综合征（MDS）的特征是多系血细胞减少和发育异常，但缺乏原始细胞的增加，没有奥尔杆或单核细胞增多，不完全符合法国-美国-英国（FAB）MDS分类的任何类别，通常诊断为难治性贫血（RA）、难治性贫血伴环形铁粒幼细胞（RARS）或"不可分类的" MDS。有人认为，这些"不可分类"的情况下，形成一个独特的子集，其临床行为更像难治性贫血与过量的原始细胞（RAEB）比RA或RARS，但很少有研究已经进行了表征这一组。我们比较了18例这样的患者的临床，血液学，形态学和细胞遗传学特征-对于其疾病，我们提出了"难治性血细胞减少伴多系发育不良"（RCMD）-与42例符合FAB标准的RA或RARS（14例患者）和RAEB（28例患者）。我们的结果表明，RCMD的血细胞减少比RA或RARS更严重，但与RAEB相似。红细胞增生和红细胞生成异常是RA或RARS骨髓标本的主要表现，但RCMD的主要特征是多系增殖和发育异常，除了缺乏增加的原始细胞外，与RAEB的表现相似。只有1/14例RA或RARS患者（7%）有异常核型，而RCMD在核型病变的频率（分别为41 vs 50%）和类型方面与RAEB相似。仅在RCMD和RAEB中观察到5号和7号染色体畸变（不包括del（5q）作为孤立发现）或复杂畸变。在RCMD中，中位生存期为24个月，4年生存率为48 ± 13%，介于RA/RARS（分别为107个月和77 ± 12%）和RAEB（分别为18个月和27 ± 9%）之间。我们的数据表明，RCMD是MDS的一个独特的子集，具有不利的临床结果。"难治性血细胞减少伴多系发育不良"的名称强调了此类病例与MDS的主要红细胞生成障碍、惰性亚组（如RA或RARS）之间的差异。
Myelodysplastic syndromes (MDS) characterized by multilineage cytopenias and dysplasia but lacking an increase in blasts, with no Auer rods or monocytosis, do not exactly fit any of the categories of the French-American-British (FAB) classification of MDS and are often diagnosed as refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), or 'unclassifiable' MDS. It has been suggested that these 'unclassifiable' cases form a distinct subset with a clinical behavior more like that of refractory anemia with excess of blasts (RAEB) than that of RA or RARS, but few studies have been undertaken that characterize this group. We compared the clinical, hematologic, morphologic and cytogenetic features of 18 such patients - for whose disease we propose the designation 'refractory cytopenia with multilineage dysplasia' (RCMD) - to those of 42 patients meeting the FAB criteria for RA or RARS (14 patients) and RAEB (28 patients). Our results show that cytopenias in RCMD are more severe than those in RA or RARS, but are similar to those in RAEB. Erythroid hyperplasia and dyserythropoiesis are the main findings in bone marrow specimens of RA or RARS, but the major features in RCMD are multilineage proliferation and dysplasia, which, except for the lack of increased blasts resemble the findings in RAEB. Only 1/14 patients (7%) with RA or RARS had an abnormal karyotype, whereas RCMD resembled RAEB in terms of the frequency (41 vs 50%, respectively) and type of karyotypic lesions. Abnormalities of chromosomes 5 and 7 (excluding del(5q) as an isolated finding) or complex aberrations were seen only in RCMD and RAEB. in RCMD, the median survival was 24 months, with a 4-year survival rate of48 +/- 13%, intermediate between the findings in RA/RARS (107 months and 77 +/- 12%, respectively) and RAEB (18 months and 27 +/- 9%, respectively). Our data indicate that RCMD is a distinct subset of MDS, with an unfavorable clinical outcome. The designation 'refractory cytopenia with multilineage dysplasia' emphasizes the differences between such cases and the primarily dyserythropoietic, indolent subgroups of MDS, such as RA or RARS.