Welborn Jeanna
Department of Internal Medicine and Pathology, University of California at Davis Medical Center, UCDMC Cancer Center, Room 3017, 4501 X Street, Sacramento, CA 95817, USA.
Cancer Genet Cytogenet. 2004 Mar;149(2):137-53. doi: 10.1016/S0165-4608(03)00301-7.
A predisposition to tumor development is associated with some constitutional chromosomal abnormalities. Investigations of families with an apparent hereditary cancer and constitutional chromosome rearrangements have led to the molecular identification of tumor suppressor genes. Under the somatic mutation theory for the development of cancer, two mutational events are required. The first step may be a constitutional event and the second an acquired genetic mutation. Cytogenetic studies were performed on 5633 bone marrow specimens from patients with hematologic malignancies from a single institution. Fifty cases of constitutional chromosome aberrations were detected. Data collected from the literature and from our series are reviewed and compared with the incidence of specific constitutional chromosome aberrations in the newborn population. Possible mechanisms that may predispose individuals with constitutional chromosome aberrations to the development of a hematologic malignancy are reviewed.
肿瘤发生的易感性与一些先天性染色体异常有关。对患有明显遗传性癌症和先天性染色体重排的家族进行的研究已导致肿瘤抑制基因的分子鉴定。根据癌症发生的体细胞突变理论，需要两个突变事件。第一步可能是先天性事件，第二步是获得性基因突变。对来自单一机构的血液系统恶性肿瘤患者的5633份骨髓标本进行了细胞遗传学研究。检测到50例先天性染色体畸变。对从文献和我们的系列研究中收集的数据进行了回顾，并与新生儿群体中特定先天性染色体畸变的发生率进行了比较。对可能使患有先天性染色体畸变的个体易患血液系统恶性肿瘤的潜在机制进行了回顾。
