20例子宫平滑肌瘤的核型重排

Karyotypic rearrangements in 20 uterine leiomyomas.

作者信息

Nilbert M, Heim S, Mandahl N, Flodérus U M, Willén H, Mitelman F

机构信息

Department of Clinical Genetics, Lund University Hospital, Sweden.

出版信息

Cytogenet Cell Genet. 1988;49(4):300-4. doi: 10.1159/000132682.

DOI:10.1159/000132682

PMID:3248388

Abstract

Short-term cultures from 106 uterine leiomyomas have been cytogenetically investigated. In 29 cases the number of metaphases was insufficient for analysis. A normal female karyotype was found in 57 tumors and clonal chromosome rearrangements in 20. A reciprocal translocation, t(12;14) (q14----q15;q23----q24), was observed in 10 tumors and probably represents a primary change of tumorigenic importance. In four of the tumors containing this specific anomaly, secondary chromosome changes were also present. The 10 karyotypically abnormal leiomyomas without a t(12;14) had various structural and numerical aberrations involving chromosomes 1, 2, 3, 4, 6, 8, 9, 10, 11, 12, 13, and 19. Different structural changes of chromosome 1 were the second most frequent abnormalities, being found in five tumors. Ring chromosomes were observed in three cases, but never as the sole change.

摘要

对106例子宫平滑肌瘤进行了短期培养，并进行了细胞遗传学研究。29例中期分裂相数量不足，无法进行分析。57个肿瘤中发现正常女性核型，20个肿瘤中发现克隆性染色体重排。在10个肿瘤中观察到相互易位t(12;14)(q14→q15;q23→q24)，可能代表具有致瘤重要性的原发性改变。在含有这种特定异常的4个肿瘤中，也存在继发性染色体改变。10个核型异常的平滑肌瘤中没有t(12;14)，具有涉及1号、2号、3号、4号、6号、8号、9号、10号、11号、12号、13号和19号染色体的各种结构和数量畸变。1号染色体的不同结构变化是第二常见的异常，在5个肿瘤中发现。3例观察到环状染色体，但从未作为唯一变化出现。