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基因不稳定的临床表现相互重叠。

Clinical manifestations of genetic instability overlap one another.

作者信息

Méhes Károly, Kosztolányi György

机构信息

Research Group of Clinical Genetics of the Hungarian Academy of Sciences at the Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.

出版信息

Pathol Oncol Res. 2004;10(1):12-6. doi: 10.1007/BF02893402. Epub 2004 Mar 18.

Abstract

Cancer syndromes are characteristic associations of specific malignancies with various congenital anomalies. In addition to such diseases, an increased prevalence in general of chromosomal instability, malformations, immunodeficiencies, altered growth and development, and reproductive loss has been observed in both childhood leukemias and solid tumors. The overlap among these congenital disorders suggests their common prenatal, possibly genetic origin and thus the existence of a nonspecific genetic instability leading to various clinical manifestations of disturbances in cell division. Seeking for related features in family members of a patient with malignancy may be of clinical value in detecting predisposition to cancer.

摘要

癌症综合征是特定恶性肿瘤与各种先天性异常的特征性关联。除了这类疾病外,在儿童白血病和实体瘤中均观察到染色体不稳定性、畸形、免疫缺陷、生长发育改变以及生殖功能丧失等情况的总体患病率增加。这些先天性疾病之间的重叠表明它们可能有共同的产前起源,可能是遗传起源,因此存在一种非特异性的遗传不稳定性,导致细胞分裂紊乱的各种临床表现。在恶性肿瘤患者的家庭成员中寻找相关特征,对于检测癌症易感性可能具有临床价值。

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