Sandberg A A
Crit Rev Clin Lab Sci. 1985;22(3):219-74. doi: 10.3109/10408368509165844.
This review will concern itself with the application of cytogenetic findings in neoplastic diseases. This application can be divided into two general categories: practical and theoretical. The practical applications reside in utilizing karyotypic changes, particularly in leukemias and lymphomas, not only for diagnostic purposes but also for predicting response to therapy and prognosis. This is especially evident in the various acute nonlymphocytic leukemias and in most of the acute lymphoblastic leukemias. Thus, a definite correlation exists between the cytogenetic findings and the various clinical, laboratory, and cytologic parameters of most of the leukemias. Undoubtedly, these leukemias will ultimately be classified and defined more in terms of their cytogenetic aspects than any other. Though the application in lymphoma is not at the same level as that in leukemia, developments in that field certainly indicate a similar utilization of the cytogenetic findings in these diseases. The presence or absence of a Ph1 chromosome in a chronic myelocytic leukemia has been utilized widely, not only in the diagnosis but also in the predictability of response; the cytogenetic findings have also been utilized in predicting the blastic phase of disease. The list of specific chromosome changes in various solid tumors is of a lesser number, but significant developments indicate that the applicability of chromosome changes in these diseases will, also, be established in the near future. The application of chromosome findings to theoretical aspects of malignancy has assumed an important place recently in the demonstration that so-called oncogenes (or proto-oncogenes) are located or associated with areas of human chromosomes in which breaks and translocations are involved. Thus, it appears that chromosome changes in human malignancy, once their specificity is established, are important parameters in the clinical and theoretical aspects of the disease. A discussion will also be given on primary vs. secondary chromosome changes and their significance in the biology and behavior of the malignancy.
本综述将关注细胞遗传学研究结果在肿瘤性疾病中的应用。这种应用可大致分为两类：实际应用和理论应用。实际应用在于利用核型变化，尤其是在白血病和淋巴瘤中，不仅用于诊断目的，还用于预测治疗反应和预后。这在各种急性非淋巴细胞白血病和大多数急性淋巴细胞白血病中尤为明显。因此，在大多数白血病中，细胞遗传学研究结果与各种临床、实验室和细胞学参数之间存在明确的相关性。毫无疑问，这些白血病最终将更多地根据其细胞遗传学特征而非其他特征进行分类和定义。尽管在淋巴瘤中的应用程度不及白血病，但该领域的进展无疑表明在这些疾病中细胞遗传学研究结果有类似的用途。慢性粒细胞白血病中费城染色体的有无不仅被广泛用于诊断，还用于预测反应；细胞遗传学研究结果也被用于预测疾病的急变期。各种实体瘤中特定染色体变化的清单数量较少，但重大进展表明，染色体变化在这些疾病中的适用性也将在不久的将来得到确立。染色体研究结果在恶性肿瘤理论方面的应用最近在证明所谓的癌基因（或原癌基因）位于或与涉及断裂和易位的人类染色体区域相关联方面占据了重要地位。因此，一旦人类恶性肿瘤中染色体变化的特异性得以确立，它们似乎就是该疾病临床和理论方面的重要参数。还将讨论原发性与继发性染色体变化及其在恶性肿瘤生物学和行为中的意义。
