Fitchett M, Griffiths M J, Oscier D G, Johnson S, Seabright M
Cancer Genet Cytogenet. 1987 Jan;24(1):143-50. doi: 10.1016/0165-4608(87)90091-4.
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.
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。
