Vasioukhin V, Anker P, Maurice P, Lyautey J, Lederrey C, Stroun M
Department of Plant Physiology, Pavillon des Isotopes, Faculty of Science, University of Geneva, Switzerland.
Br J Haematol. 1994 Apr;86(4):774-9. doi: 10.1111/j.1365-2141.1994.tb04828.x.
Oncogene mutations are frequently found in several tumour types and, among these, point mutations of the ras gene are particularly significant. A predominance of N-ras mutations has been found in the bone marrow DNA of patients with myelodysplastic syndrome (MDS) or acute myelogenous leukaemia (AML). On the other hand, increased levels of plasma DNA have previously been observed in patients suffering from various malignant diseases. In the present work we have investigated, by polymerase chain reaction (PCR), point mutations of the N-ras gene in the DNA of plasma, blood cells and bone marrow of 10 patients suffering from AML or MDS. The different ras mutations detected in five cases were always present in the plasma DNA while sometimes absent in the DNA of peripheral blood cells or bone marrow. This indicates that a bone marrow biopsy or aspiration does not necessarily contain all the malignant clones involved in the disease. Plasma could thus prove to be an easily accessible and useful material for detection and monitoring of myeloid disorders.
癌基因突变在多种肿瘤类型中经常被发现，其中，ras基因的点突变尤为重要。在骨髓增生异常综合征（MDS）或急性髓性白血病（AML）患者的骨髓DNA中发现N-ras突变占主导地位。另一方面，先前在患有各种恶性疾病的患者中观察到血浆DNA水平升高。在本研究中，我们通过聚合酶链反应（PCR）研究了10例AML或MDS患者血浆、血细胞和骨髓DNA中N-ras基因的点突变。在5例中检测到的不同ras突变总是存在于血浆DNA中，而在外周血细胞或骨髓DNA中有时不存在。这表明骨髓活检或穿刺不一定包含该疾病中所有受累的恶性克隆。因此，血浆可能被证明是一种易于获取且有用的材料，可用于检测和监测髓系疾病。
