单纯11三体骨髓增生异常综合征的血液学特征与预后

Hematological Characteristics and Prognosis of Myelodysplastic Syndrome with Sole Trisomy 11

目的探讨单纯11三体骨髓增生异常综合征(MDS)的血液学特征和预后。方法对5例单纯11三体MDS进行回顾性分析。对骨髓涂片行Wright-Gimsa染色观察其形态学改变;应用骨髓细胞短期培养法制备染色体标本,采用R显带技术进行染色体核型分析;随访观察转白率、疗效及生存期。结果238例MDS有5例检出单纯11三体核型异常,发生率为2.1%。5例患者外周血全血细胞减少,骨髓粒、红、巨核多系有明显病态的造血改变。难治性贫血(RA)1例,难治性贫血伴原始细胞增多(RAEB)2例,难治性贫血伴原始细胞增多转化型(RAEB-t)2例。4例患者转化为急性髓细胞白血病(M22例、M51例、M61例),转白率80%,总缓解率50%,中位生存期16个月。结论单纯11三体MDS以RAEB、RAEB-t亚型为主,多系有明显病态的造血改变,转化为急性髓细胞白血病发生率高,预后不良。

Objective To explore the hematological characteristics and prognosis of myelodysplastic syndrome （MDS） with sole trisomy 11. Methods A retrospective study of 5 MDS patients with trisomy 11 defined by the FAB classification was performed. The bone marrow smears stained with Wright-Gimsa were observed under microscope. Chromosome specimens were prepared by short-term culture of bone marrow cells and karyotype. Analyses were carried out using R-banding techniques. The rate of transforming into acute leukaemia, the response to chemotherapy and survival times were analyzed. Results The sole trisomy 11 was found in 5 of 238 MDS cases（2.1%）. All cases revealed prominent paneytopenia and trilineage dysplasia were present in hone marrow ceils. 1 of these patients had refractory anemia （RA）, 2 had refractory anemia with excess of blasts （RAEB）. And 2 had RAEB in transformation（RAEB-t）. 4 of 5 cases had transformed into acute myelocytic leukaemia （80%）. The complete remission rate was 50% with a median survival of 16 months. Conclusion Multilineage dysplasia features was exhibited in MDS with sole trisomy 11, specific chromosomal abnormality was mainly seen in RAEB and RAEB-t with higher risk of transforming into acute myelocytic leukaemia and poor prognosis.