Baba Maki, Hata Tomoko, Tsushima Hideki, Mori Sayaka, Sasaki Daisuke, Turuta Kazuto, Hasegawa Hiroo, Ando Koji, Sawayama Yasushi, Imanishi Daisuke, Taguchi Jun, Yanagihara Katsunori, Tomonaga Masao, Kamihira Shimeru, Miyazaki Yasushi
Department of Hematology, Unit of Atomic Bomb Disease and Hibakusha Medicine, Nagasaki University Graduate School of Biomedical Sciences, Japan.
Intern Med. 2015;54(5):445-51. doi: 10.2169/internalmedicine.54.3123. Epub 2015 Jan 15.
Myelodysplastic syndromes (MDS) are a group of hematological neoplasms associated with ineffective hematopoiesis and that transform to acute leukemia. Distinguishing MDS from other cytopenias is sometimes difficult even for trained hematologists. WT1, the gene mutated in Wilms' tumor, was found expressed in acute myeloid leukemia and MDS. The amount of WT1 in peripheral blood and bone marrow (BM) is low in low-risk MDS subtypes, and is high in high-risk MDS subtypes. However, the role of WT1 in the differential diagnosis between MDS and other diseases showing cytopenia has not been fully addressed. The present study evaluated whether WT1 expression level can assist in the differential diagnosis of MDS from other cytopenias.
The amount of WT1 message was evaluated among 56 MDS patients and 47 patients with cytopenia for various other reasons (cytopenia VR) at the Nagasaki University Hospital.
The level of WT1 was significantly related to the percentage of blasts in BM among MDS cases, and the type of French-American-British classification of MDS; refractory anemia (RA) cases showed significantly lower WT1 level than patients with RA with excess blasts. WT1 level was significantly related to the prognostic risk categories of MDS by the International Prognostic Scoring System (IPSS) and the revised IPSS. Although the blast percentage in the BM of RA and cytopenia VR were both less than 5%, there was a significant difference in the level of WT1 between MDS and cytopenia VR.
WT1 might be a good marker to differentiate low blast percentage MDS and cytopenia VR.
骨髓增生异常综合征(MDS)是一组与无效造血相关且可转化为急性白血病的血液系统肿瘤。即使对于训练有素的血液学家而言,有时也难以将MDS与其他血细胞减少症区分开来。WT1基因在肾母细胞瘤中发生突变,在急性髓系白血病和MDS中也有表达。低危MDS亚型外周血和骨髓(BM)中的WT1含量较低;高危MDS亚型中WT1含量较高。然而,WT1在MDS与其他表现为血细胞减少症的疾病的鉴别诊断中的作用尚未得到充分探讨。本研究评估WT1表达水平是否有助于MDS与其他血细胞减少症的鉴别诊断。
在长崎大学医院,对56例MDS患者和47例因其他各种原因导致血细胞减少症(血细胞减少症VR)的患者进行WT1信息含量评估。
MDS病例中,WT1水平与BM中的原始细胞百分比显著相关,也与MDS的法国-美国-英国分类类型相关;难治性贫血(RA)病例的WT1水平显著低于伴有过多原始细胞的RA患者。WT1水平与国际预后评分系统(IPSS)和修订的IPSS对MDS的预后风险类别显著相关。虽然RA和血细胞减少症VR的BM中的原始细胞百分比均小于5%,但MDS与血细胞减少症VR之间的WT1水平存在显著差异。
WT1可能是区分低原始细胞百分比MDS和血细胞减少症VR的良好标志物。