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血液系统恶性肿瘤中涉及13q14带的染色体异常。

Chromosome abnormalities involving band 13q14 in hematologic malignancies.

作者信息

Fitchett M, Griffiths M J, Oscier D G, Johnson S, Seabright M

出版信息

Cancer Genet Cytogenet. 1987 Jan;24(1):143-50. doi: 10.1016/0165-4608(87)90091-4.

Abstract

Fifteen patients with hematologic disorders showed abnormalities involving chromosome band 13q14. Nine patients had an interstitial deletion of this band, similar to that reported in some retinoblastoma tumors and as a constitutional abnormality in a small proportion of cases of familial retinoblastoma. In five patients, band 13q14 was involved in translocations and in one case there was a deletion of one chromosome #13 and a translocation involving the homologous #13. The diagnosis in the majority of our patients (11 of 15) was chronic lymphocytic leukemia. In these patients the abnormalities were detected in cultures stimulated with 4-phorbol 12-myristate 13-acetate (PMA). It is possible that the utilization of this agent is a fundamental requirement for the reliable demonstration of abnormalities involving 13q14 in patients with B-cell malignancies. The incidence of abnormalities involving 13q14 and their significance in the development of neoplasias, other than retino-blastoma, is discussed.

摘要

15例血液系统疾病患者显示出涉及染色体带13q14的异常。9例患者该带存在间质缺失,类似于一些视网膜母细胞瘤肿瘤中报道的情况,并且在一小部分家族性视网膜母细胞瘤病例中作为一种体质性异常。5例患者中,13q14带参与了易位,1例患者存在1条13号染色体缺失以及涉及同源13号染色体的易位。我们大多数患者(15例中的11例)的诊断为慢性淋巴细胞白血病。在这些患者中,异常是在用4-佛波醇12-肉豆蔻酸酯13-乙酸酯(PMA)刺激的培养物中检测到的。对于B细胞恶性肿瘤患者,使用这种试剂可能是可靠显示涉及13q14异常的基本要求。本文讨论了除视网膜母细胞瘤外,涉及13q14异常的发生率及其在肿瘤发生中的意义。

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