Shafei-Benaissa E, Huret J L, Larrègue M, Babin P, Tanzer J, Decrozailles J M, Savage J R
Lab. Hématologie, CHU la Milètrie, Poitiers, France.
Mutat Res. 1994 Jul 1;308(1):1-9. doi: 10.1016/0027-5107(94)90193-7.
The naevoid basal-cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with multiple basal-cell carcinomas, an increased risk for other neoplasms, and various malformations. Chromosome instability has been implicated in the pathogenesis of this syndrome, but these reports are somewhat contradictory. We have investigated five patients, two with confirmed NBCCS and three suspected. No evidence for chromosome instability was found in lymphocytes at three sample times after stimulation using metaphase aberration analysis, sister-chromatid exchange (SCE) in second division cells, or micronuclei. A significant lengthening of the cell cycle was found for the two confirmed NBCCS patients, but not for the suspected cases.
痣样基底细胞癌综合征(NBCCS)是一种常染色体显性疾病,表现为多发性基底细胞癌、其他肿瘤发病风险增加以及多种畸形。染色体不稳定性被认为与该综合征的发病机制有关,但这些报道存在一定矛盾。我们对5例患者进行了研究,其中2例确诊为NBCCS,3例疑似病例。使用中期畸变分析、第二分裂期细胞的姐妹染色单体交换(SCE)或微核,在刺激后的三个采样时间点对淋巴细胞进行检测,未发现染色体不稳定的证据。两名确诊的NBCCS患者的细胞周期显著延长,但疑似病例未出现这种情况。