Samouhos E
Am J Clin Oncol. 1983 Aug;6(4):503-6. doi: 10.1097/00000421-198308000-00019.
Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available.
某些特定的染色体异常与特定癌症相关。这种特定关联的最早描述是关于费城染色体与骨髓性白血病的(1960年)。其他先天性核型异常与特定癌症有关。这些例子包括唐氏综合征与白血病以及克兰费尔特综合征与男性乳腺癌。染色体断裂增加或染色体修复缺陷的遗传性疾病与癌症发病率大幅增加有关。已确认三种此类疾病:1)范科尼贫血,与白血病和淋巴瘤相关;2)布卢姆综合征,与急性白血病和淋巴肉瘤相关;3)共济失调毛细血管扩张症,与霍奇金病、白血病和淋巴肉瘤相关。患共济失调毛细血管扩张症的个体中有10%会患上这些肿瘤中的一种。患有某些此类综合征的个体表现出异常高的放射敏感性。对于癌症的放射治疗,接受低至3000拉德剂量的患者已出现致命情况。这种显著的放射敏感性已在这些病例的细胞培养中进行了量化。有证据表明,这种明显的敏感性可能反映了修复辐射损伤的能力低于正常水平。该领域信息的快速增长源于许多学科和专业的相互交叉,包括细胞遗传学、细胞生物学、分子生物学、流行病学、放射生物学以及其他一些学科。本文面向临床医生;它提出了一种结构化分析方案,用于在多学科信息可用时对其进行关联和分类。