Rosati S, Mick R, Xu F, Stonys E, Le Beau M M, Larson R, Vardiman J W
Department of Pathology, New York University, New York, USA.
Leukemia. 1996 Jan;10(1):20-6.
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.
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，但原始细胞无增多，无奥氏小体或单核细胞增多，不完全符合法国-美国-英国（FAB）MDS分类的任何类别，常被诊断为难治性贫血（RA）、环形铁粒幼细胞性难治性贫血（RARS）或“无法分类的”MDS。有人提出，这些“无法分类的”病例构成一个独特的亚组，其临床行为更类似于伴有过多原始细胞的难治性贫血（RAEB），而不是RA或RARS，但很少有研究对该组进行特征描述。我们比较了18例这类患者（我们建议将其疾病命名为“多系发育异常的难治性血细胞减少症”（RCMD））与42例符合RA或RARS（14例患者）及RAEB（28例患者）FAB标准患者的临床、血液学、形态学和细胞遗传学特征。我们的结果显示，RCMD中的血细胞减少比RA或RARS中的更严重，但与RAEB中的相似。红系增生和红系造血异常是RA或RARS骨髓标本中的主要表现，但RCMD的主要特征是多系增殖和发育异常，除了原始细胞无增多外，类似于RAEB中的表现。RA或RARS患者中只有1/14（7%）的核型异常，而RCMD在核型病变的频率（分别为41%和50%）和类型方面与RAEB相似。5号和7号染色体异常（不包括孤立的del(5q)）或复杂畸变仅在RCMD和RAEB中出现。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%）的结果之间。我们的数据表明，RCMD是MDS的一个独特亚组，临床结局不佳。“多系发育异常的难治性血细胞减少症”这一命名强调了这类病例与MDS主要为红系造血异常、惰性的亚组（如RA或RARS）之间的差异。
