Lo Vasco V R, Calabrese G, Manzoli L, Palka G, Spadano A, Morizio E, Guanciali-Franchi P, Fantasia D, Cocco L
Cellular Signalling Laboratory, Department of Anatomical Sciences, University of Bologna, Bologna, Italy.
Leukemia. 2004 Jun;18(6):1122-6. doi: 10.1038/sj.leu.2403368.
Myelodysplastic syndrome (MDS) is an adult hematological disease that evolves into acute myeloid leukemia (AML) in about 30% of the cases. The availability of a highly specific probe moved us to perform in patients affected with MDS/AML, associated with normal karyotype, painting and fluorescence in situ hybridization (FISH) analysis aimed to check the inositide-specific phospholipase C (PI-PLC) beta1 gene, a player in the control of some checkpoints of the cell cycle. Here we present a preliminary observation in which FISH analysis disclosed in a small group of MDS/AML patients with normal karyotype the monoallelic deletion of the PI-PLCbeta1 gene. On the contrary, PI-PLC beta4, another gene coding for a signaling molecule, located on 20p12.3 at a distance as far as less than 1Mb from PI-PLCbeta1, is unaffected in MDS patients with the deletion of PI-PLC beta1 gene, hinting at an interstitial deletion. The MDS patients, bearing the deletion, rapidly evolved to AML. The data suggest the possible involvement of PI-PLCbeta1 in the progression of the disease and pave the way for a larger investigation aimed at identifying a possible high-risk group among MDS patients with a normal karyotype.
骨髓增生异常综合征（MDS）是一种成人血液疾病，约30%的病例会发展为急性髓系白血病（AML）。有了高度特异性探针后，我们对核型正常的MDS/AML患者进行了染色体涂染和荧光原位杂交（FISH）分析，旨在检测肌醇特异性磷脂酶C（PI-PLC）β1基因，该基因在细胞周期某些检查点的控制中发挥作用。在此，我们展示一项初步观察结果，FISH分析在一小部分核型正常的MDS/AML患者中发现了PI-PLCβ1基因的单等位基因缺失。相反，位于20p12.3、与PI-PLCβ1距离小于1Mb的另一个编码信号分子的基因PI-PLCβ4，在PI-PLCβ1基因缺失的MDS患者中未受影响，提示存在中间缺失。携带该缺失的MDS患者迅速发展为AML。这些数据表明PI-PLCβ1可能参与疾病进展，并为更大规模的研究铺平道路，该研究旨在确定核型正常的MDS患者中可能的高危组。
