de Kok J B, van Solinge W W, Ruers T J, Roelofs R W, van Muijen G N, Willems J L, Swinkels D W
Department of Clinical Chemistry, University Hospital Nijmegen, The Netherlands.
Scand J Clin Lab Invest. 1997 Nov;57(7):601-4. doi: 10.3109/00365519709055283.
Circulating tumour DNA has previously been detected in serum and plasma of patients with lung cancer and head and neck cancer. These observations could potentially lead to new, specific and non-invasive tools for diagnosis, prognosis and follow-up in neoplastic disease, if found to be a more general phenomenon. To test if tumour DNA is also present in serum of patients with colorectal cancer, we selected 14 colorectal cancer patients with advanced disease. In seven patients, K-ras mutations were detected in the primary tumour, using mutant-specific primers for point mutations in codon 12 or 13 of the K-ras gene. All patients were analysed for mutant DNA in serum. Tumour-specific point mutations, corresponding to the K-ras mutations found in the primary tumour were detected in the serum of all patients but one. No mutant K-ras could be detected in the serum of seven patients without K-ras mutations in the primary tumour. These results may be useful in assessing tumour burden in patients with neoplastic disease. Moreover, consecutive testing of serum tumour DNA after surgery or chemotherapy may be used as a tumour marker for recurrent disease.
此前已在肺癌和头颈癌患者的血清和血浆中检测到循环肿瘤DNA。如果发现这是一种更普遍的现象，这些观察结果可能会带来用于肿瘤疾病诊断、预后和随访的新的、特异性的非侵入性工具。为了检测结直肠癌患者血清中是否也存在肿瘤DNA，我们选择了14例晚期结直肠癌患者。在7例患者中，使用针对K-ras基因第12或13密码子点突变的突变特异性引物，在原发肿瘤中检测到K-ras突变。对所有患者的血清进行了突变DNA分析。除1例患者外，在所有患者的血清中均检测到与原发肿瘤中发现的K-ras突变相对应的肿瘤特异性点突变。在原发肿瘤中无K-ras突变的7例患者的血清中未检测到突变型K-ras。这些结果可能有助于评估肿瘤疾病患者的肿瘤负荷。此外，术后或化疗后连续检测血清肿瘤DNA可作为复发疾病的肿瘤标志物。
