突尼斯原发性骨髓增生异常综合征的细胞遗传学异常：与其他人群的比较。
Cytogenetic abnormalities in Tunisian de novo myelodysplastic syndrome: a comparison with other populations.
作者信息
Gmidène Abir, Sennana Hlima, Fenaux Pierre, Laatiri Adnène, Zarrouk Mohamed, Bouaziz Houssem, Harrabi Imed, Saad Ali
机构信息
Laboratoire de Cytogénétique et de Biologie de la Reproduction, CHU Farhat, Hached, Sousse, Tunisie.
出版信息
Leuk Res. 2008 Dec;32(12):1824-9. doi: 10.1016/j.leukres.2008.05.002. Epub 2008 Jun 16.
Cytogenetic analysis was performed on 224 bone marrow (BM) of Tunisian patients with de novo myelodysplastic syndrome (MDS) at our institution from January 1993 to December 2006. According to French-American-British (FAB) criteria, there were 36% of patients with refractory anaemia (RA), 26% with refractory anaemia with excess of blasts (RAEB), 10% with refractory anaemia with ringed sideroblasts (RARS), 12% with chronic myelomonocytic leukaemia (CMML), 9% refractory anaemia with excess of blasts in transformation (RAEB-t) and 7% of unclassified MDS. A clonal chromosomal abnormality was observed in 51% of the patients. The most frequent karyotypic change was 5q- in 30 cases (13%), followed by -7/7q- in 17 cases (8%), del(12p) in 8 cases (4%), del(20q) and trisomy 8 in 7 cases each (3%), i(17q) in 2 cases (1%) and -y in only one case (0.4%). This is the first large comparative series of MDS from an Arab country, with cytogenetic analysis showing haematological and cytogenetic features similar to those of MDS population of European or mixed European-subsaharian African origin (like Brazil), but different from those seen in Eastern populations.
1993年1月至2006年12月期间，我们机构对224例突尼斯初诊骨髓增生异常综合征（MDS）患者的骨髓进行了细胞遗传学分析。根据法美英（FAB）标准，难治性贫血（RA）患者占36%，难治性贫血伴原始细胞增多（RAEB）患者占26%，环形铁粒幼细胞性难治性贫血（RARS）患者占10%，慢性粒单核细胞白血病（CMML）患者占12%，转化中的难治性贫血伴原始细胞增多（RAEB-t）患者占9%，未分类的MDS患者占7%。51%的患者观察到克隆性染色体异常。最常见的核型改变是5号染色体长臂缺失（5q-），共30例（13%），其次是7号染色体单体或7号染色体长臂缺失（-7/7q-），共17例（8%），12号染色体短臂缺失（del(12p)）8例（4%），20号染色体长臂缺失（del(20q)）和8号染色体三体各7例（3%），17号染色体长臂等臂染色体（i(17q)）2例（1%），仅1例为Y染色体缺失（-y，0.4%）。这是来自阿拉伯国家的首个关于MDS的大型比较系列研究，细胞遗传学分析显示其血液学和细胞遗传学特征与欧洲或欧洲与撒哈拉以南非洲混血人群（如巴西）的MDS患者相似，但与东方人群不同。
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