Marasca R, Luppi M, Barozzi P, Ferrari M G, Morselli M, Torelli G
Department of Medical Sciences, University of Modena, Italy.
Leuk Lymphoma. 1996 Dec;24(1-2):175-82. doi: 10.3109/10428199609045726.
Molecular alterations of the P53 gene were investigated in 27 unselected patients with chronic myelogenous leukemia (CML) blast crisis. A rearrangement of the P53 gene was evident by Southern blotting in 3 cases, one of which also showed the same alteration in the chronic phase. Single strand conformation polymorphism and sequencing analysis showed point mutations in 4 blast crisis cases. Of interest, P53 point mutations were evident in all the 3 cases of extramedullary blast crisis examined and the same point mutation was found in the myeloblastoma tissues and in the subsequent peripheral blast cells. These data indicate that: a) P53 gene mutations occur in a significant but not a large number of CML acute phase cases; b) P53 gene point mutations seem to correlate strongly with the infrequent extramedullary presentation of the blast crisis; c) the presence of the same P53 gene point mutation in extramedullary and bone marrow blast cells confirms the common clonal origin of the two cellular populations.
对27例未经挑选的慢性粒细胞白血病（CML）急变期患者的P53基因分子改变进行了研究。通过Southern印迹法在3例患者中发现了P53基因重排，其中1例在慢性期也表现出相同改变。单链构象多态性和测序分析在4例急变期病例中发现了点突变。有趣的是，在所检测的3例髓外急变期病例中均发现了P53点突变，且在成髓细胞瘤组织及随后的外周血原始细胞中发现了相同的点突变。这些数据表明：a）P53基因突变在相当一部分但并非大量的CML急性期病例中发生；b）P53基因点突变似乎与急变期罕见的髓外表现密切相关；c）髓外和骨髓原始细胞中存在相同的P53基因点突变证实了这两个细胞群体的共同克隆起源。
