109例原发性骨髓增生异常综合征患者的血液学、临床及细胞遗传学分析。形态学和染色体检查结果的预后意义。

Hematologic, clinical, and cytogenetic analysis in 109 patients with primary myelodysplastic syndrome. Prognostic significance of morphology and chromosome findings.

作者信息

Parlier V, van Melle G, Beris P, Schmidt P M, Tobler A, Haller E, Bellomo M J

机构信息

Division de Génétique Médicale, Centre Hospitalier Universitaire Vauodis, Lausanne, Switzerland.

出版信息

Cancer Genet Cytogenet. 1994 Dec;78(2):219-31. doi: 10.1016/0165-4608(94)90094-9.

DOI:10.1016/0165-4608(94)90094-9

PMID:7828157

Abstract

One hundred and nine patients with primary myelodysplastic syndrome (MDS) were classified according to the French-American-British (FAB) criteria: 27 refractory anemia (RA, 25%), 26 RA with ringed sideroblasts (RARS, 24%), 16 RA with excess of blasts (RAEB, 15%), 10 RAEB in transformation (RAEB-t, 9%), 25 chronic myelomonocytic leukemia (CMMoL, 23%), and five unclassifiable MDS (4%). Forty-three were women and 66 were men (sex ratio 2:3). Age ranged from 30-92 years (mean 69 years) with nine patients aged less than 50 years (8%). A cytogenetic result was obtained in all cases. At initial study, a chromosome defect was observed in 56% of patients. Rates of abnormality depended on FAB subtype: 52% in RA, 100% in RA 5q-, 50% in RARS, 56% in RAEB, 70% in RAEB-t and 44% in CMMoL. The most frequent single defects were del(5q), -7/del(7q), del(20q), Y loss, and +8. Except for the 5q- syndrome entity, specific chromosome defects were not associated with particular FAB subtypes. Bone marrow (BM) insufficiency (22%) and leukemic transformation (21%) were the most important causes of death. The rate of leukemic transformation increased with the number of dysplastic BM cell lineages and was also associated with karyotype complexity and the proportion of abnormal/normal metaphases. The longest median survivals were observed in RARS (142 months) and RA/RA5q- (91 months) types. Median survivals decreased with increasing Bournemouth score values. Patients with three abnormal cell lineages had a median survival shorter than those with one or two abnormal lineages. Similarly, patients with complex defects had shorter survival than those with single or double defects or a normal karyotype. There was no statistically significant difference between survival of NN (normal), AN (abnormal/normal), and AA patients or between survival of patients with del(5q), -7/del(7q), +8 or del(20q).

摘要

109例原发性骨髓增生异常综合征（MDS）患者根据法美英（FAB）标准进行分类：27例难治性贫血（RA，25%），26例伴有环形铁粒幼细胞的RA（RARS，24%），16例伴有过多原始细胞的RA（RAEB，15%），10例转化中的RAEB（RAEB-t，9%），25例慢性粒单核细胞白血病（CMMoL，23%），以及5例无法分类的MDS（4%）。43例为女性，66例为男性（性别比2:3）。年龄范围为30 - 92岁（平均69岁），9例患者年龄小于50岁（8%）。所有病例均获得了细胞遗传学结果。在初始研究中，56%的患者观察到染色体缺陷。异常率取决于FAB亚型：RA中为52%，5q-缺失的RA中为100%，RARS中为50%，RAEB中为56%，RAEB-t中为70%，CMMoL中为44%。最常见的单一缺陷为del(5q)、-7/del(7q)、del(20q)、Y染色体丢失和+8。除了5q-综合征实体外，特定的染色体缺陷与特定的FAB亚型无关。骨髓（BM）功能不全（22%）和白血病转化（21%）是最重要的死亡原因。白血病转化率随着发育异常的BM细胞系数量增加而升高，并且还与核型复杂性以及异常/正常中期相的比例相关。在RARS（142个月）和RA/RA5q-（91个月）类型中观察到最长的中位生存期。中位生存期随着伯恩茅斯评分值的增加而降低。具有三个异常细胞系的患者中位生存期短于具有一个或两个异常细胞系的患者。同样，具有复杂缺陷的患者生存期短于具有单一或双重缺陷或核型正常的患者。NN（正常）、AN（异常/正常）和AA患者的生存期之间，或具有del(5q)、-7/del(7q)、+8或del(20q)的患者生存期之间，均无统计学显著差异。