Al-Achkar Walid, Wafa Abdulsamad, Klein Elisabeth, Aljapawe Abdulmunim
Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Mol Cytogenet. 2011 Aug 18;4:16. doi: 10.1186/1755-8166-4-16.
Myelodysplastic syndrome (MDS) represents a group of clonal hematological disorders characterized by progressive cytopenia, and reflects to defects in erythroid, myeloid and megakaryocytic maturation. MDS is more frequently observed in older aged patients with cytogenetic abnormalities like monosomy of chromosome(s) 5 and/or 7. In 50% of de novo MDS cases, chromosomal aberrations are found and rearrangements involving the retinoblastoma (RB1) gene in 13q14 are found.
Here, we are presenting a case report of a rare biclonal MDS with a karyotype of 45, XY,-4, der(6)t(4;6)(p15.1;p21.3), der(8)t(4;8)(q31.2;q22), t(13;16)(q21.3;p11.2)11/45, XY, der(7)t(7;13)(p22.2~22.3;q21.3),-13 9. The patient was diagnosed according to WHO classification as refractory anemia with excess of blasts (RAEB-II).Immunophenotyping was positive for CD11b, CD11c, CD10, CD13, CD15, CD16 and CD33.
We report, a novel and cytogenetically rare case of a biclonal MDS with complex chromosomal aberrations and deletion of RB1-gene in both clones. These findings are associated with a poor prognosis as the patient died 3 months after diagnosis.
骨髓增生异常综合征（MDS）是一组以进行性血细胞减少为特征的克隆性血液系统疾病，反映了红系、髓系和巨核系成熟缺陷。MDS在老年患者中更常见，伴有细胞遗传学异常，如5号和/或7号染色体单体。在50%的初发MDS病例中可发现染色体畸变，且在13q14发现涉及视网膜母细胞瘤（RB1）基因的重排。
在此，我们报告一例罕见的双克隆MDS病例，其核型为45, XY, -4, der(6)t(4;6)(p15.1;p21.3), der(8)t(4;8)(q31.2;q22), t(13;16)(q21.3;p11.2)11/45, XY, der(7)t(7;13)(p22.2~22.3;q21.3), -13 9。根据世界卫生组织分类，该患者被诊断为难治性贫血伴原始细胞增多（RAEB-II）。免疫表型分析显示CD11b、CD11c、CD10、CD13、CD15、CD16和CD33呈阳性。
我们报告了一例新型且细胞遗传学罕见的双克隆MDS病例，两个克隆均存在复杂的染色体畸变和RB1基因缺失。这些发现与预后不良相关，因为患者在诊断后3个月死亡。
