Maccari A, Donti G V, Rizzo M T, Paltriccia R, Tabilio A, Donti E
Second Department of Internal Medicine, Perugia University, Italy.
Cancer Genet Cytogenet. 1991 Oct 15;56(2):203-7. doi: 10.1016/0165-4608(91)90172-q.
A case of refractory anemia with sideroblastosis and a number of bone-marrow blasts slightly over the limit which separates the I/II and III FAB-subtypes of myelodysplastic syndromes is described. The leukemic-like type of in vitro growth and the multiple karyotypic changes observed in the bone-marrow cells at presentation were both indicators of the malignant nature of the disorder and underlined the importance of these studies in assessing diagnosis and prognosis in patients with preleukemic disorders. The role that the chromosome aberrations, del(11)(q14) and del(18)(q21), both found in 100% of the bone-marrow metaphases examined, may play in the pathogenesis of the disease is also discussed.
本文描述了一例伴有环形铁粒幼细胞的难治性贫血,其骨髓原始细胞数量略超过骨髓增生异常综合征I/II型与III型FAB亚型的区分界限。初诊时骨髓细胞中观察到的白血病样体外生长类型和多种核型改变均表明该疾病具有恶性本质,并强调了这些研究在评估白血病前期疾病患者的诊断和预后中的重要性。本文还讨论了在所有检测的骨髓中期相中均发现的染色体畸变del(11)(q14)和del(18)(q21)在该疾病发病机制中可能发挥的作用。