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心脏黏液瘤中的染色体异常克隆和非随机端粒易位。

Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas.

作者信息

Dewald G W, Dahl R J, Spurbeck J L, Carney J A, Gordon H

出版信息

Mayo Clin Proc. 1987 Jul;62(7):558-67. doi: 10.1016/s0025-6196(12)62293-9.

Abstract

Cardiac myxomas from eight patients were examined cytogenetically in short-term cultures. Cultures could not be established in two of the eight cases. Chromosomally abnormal clones occurred in two of the myxomas; their karyotypes were 45,X,-Y,+7,-18 and 45,X,-Y. In three other myxomas, we found a rare kind of telomere-to-telomere translocation between chromosomes. The telomeres predominantly involved in these three tumors were the 2qter (the end of the long arm of chromosome 2), the 12pter (the end of the short arm of chromosome 12), and Yqter (the end of the long arm of the Y chromosome), respectively. In one other myxoma, 20% of the cells were tetraploid. These findings support the concept that myxomas are neoplastic; those with an abnormal clone may even have malignant potential. The unusual telomere-to-telomere translocations were not observed in a clonal pattern. They may represent a specific type of chromosomal instability associated with a defect in repair or replication of telomeric DNA.

摘要

对8例患者的心脏黏液瘤进行了短期培养的细胞遗传学检查。8例中有2例未能建立培养体系。2例黏液瘤出现了染色体异常克隆,其核型分别为45,X,-Y,+7,-18和45,X,-Y。在另外3例黏液瘤中,我们发现染色体之间存在一种罕见的端粒到端粒的易位。这3个肿瘤中主要涉及的端粒分别是2qter(2号染色体长臂末端)、12pter(12号染色体短臂末端)和Yqter(Y染色体长臂末端)。在另一例黏液瘤中,20%的细胞为四倍体。这些发现支持了黏液瘤是肿瘤的概念;那些具有异常克隆的黏液瘤甚至可能具有恶性潜能。异常的端粒到端粒易位未以克隆模式观察到。它们可能代表了一种与端粒DNA修复或复制缺陷相关的特定类型的染色体不稳定性。

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