Stamatoullas Aspasia, Callat Marie Paule, Marreiros Sandra, Tilly Hervé, Bastard Christian
Groupe d'Etude des Proliferations Lymphoïdes, Centre Henri Becquerel, Département d'Hématologie INSERM U 614, IFR 23, Rouen, France.
Cancer Genet Cytogenet. 2006 Oct 15;170(2):129-32. doi: 10.1016/j.cancergencyto.2006.05.012.
Over an 18-year period, 10 myelodysplastic syndrome (MDS) patients with complex hyperdiploid karyotypes were identified. According to the FAB classification, the 10 patients were subclassified as three refractory anemias (RA), three refractory anemias with excess blasts (RAEB), two RAEB in transformation (RAEB-t), and two unclassified MDS. According to the WHO classification, the diagnoses were two RA, one refractory cytopenia with multilineage dysplasia, two RAEB-1, one RAEB-2, two unclassified MDS, and two acute myeloid leukemia. Six were secondary MDS. Four patients showed marked dyserythropoiesis; three of these were secondary MDS. The chromosome number ranged from 47 to 62, and clonal evolution or composite karyotypes were noted in 7 patients. Seven patients had at least one clone with >50 chromosomes. Recurrent defects included chromosome 5, 17, and 13 abnormalities. Notably, trisomy 8 and monosomy 7 were rare in that group of patients. Three of four patients with marked dyserythropoiesis shared abnormalities of both chromosomes 13 and 17.
在18年的时间里，共确定了10例具有复杂超二倍体核型的骨髓增生异常综合征（MDS）患者。根据FAB分类，这10例患者被进一步分类为3例难治性贫血（RA）、3例伴有原始细胞增多的难治性贫血（RAEB）、2例转化中的RAEB（RAEB-t）和2例未分类的MDS。根据WHO分类，诊断结果为2例RA、1例伴有多系发育异常的难治性血细胞减少、2例RAEB-1、1例RAEB-2、2例未分类的MDS和2例急性髓系白血病。6例为继发性MDS。4例患者表现出明显的红细胞生成异常；其中3例为继发性MDS。染色体数目范围为47至62，7例患者出现克隆进化或复合核型。7例患者至少有一个染色体数目大于50的克隆。常见的缺陷包括5号、17号和13号染色体异常。值得注意的是，该组患者中8号染色体三体和7号染色体单体很少见。4例有明显红细胞生成异常的患者中有3例同时存在13号和17号染色体异常。
