Shafei-Benaissa E, Savage J R, Papworth D, Babin P, Larrègue M, Tanzer J, Bonnetblanc J M, Vaillant L, Huret J L
Cytogénétique, Laboratoire Hématologie, CHU la Milètrie, Poitiers, France.
Mutat Res. 1995 Nov;332(1-2):27-32. doi: 10.1016/0027-5107(95)00082-0.
The Gorlin syndrome, or naevoid basal-cell carcinoma syndrome (NBCS) is an autosomal dominant disease. It has been suspected for long that this cancer prone disease (multiple basal-cell carcinomas; other malignant or benign proliferations) is a chromosome instability syndrome. We previously reported a lengthening in the cell cycle of lymphocytes from two patients with NBCS. With a larger sample (n = 7), we confirm this disease to be a chromosome instability syndrome, although clearly, expression of this characteristic can vary between patients: (1) spontaneous chromatid breaks occurred more often in a subset of the patients; (2) spontaneous micronuclei were found more frequently in NBCS than in the controls; (3) we confirm the cell cycle to be affected in this disease. As these results were obtained on lymphocytes--a cell lineage not affected in NBCS manifestations--the chromosome instability we found would appear to be part of the general condition of this syndrome.
戈林综合征,即痣样基底细胞癌综合征(NBCS),是一种常染色体显性疾病。长期以来,人们一直怀疑这种易患癌症的疾病(多发性基底细胞癌;其他恶性或良性增殖)是一种染色体不稳定综合征。我们之前报道过两名NBCS患者的淋巴细胞细胞周期延长。通过更大的样本(n = 7),我们证实这种疾病是一种染色体不稳定综合征,不过显然,该特征的表现可能因患者而异:(1)在部分患者中,自发染色单体断裂更频繁发生;(2)NBCS患者中自发微核的发现频率高于对照组;(3)我们证实该疾病会影响细胞周期。由于这些结果是在淋巴细胞(NBCS表现中未受影响的细胞谱系)上获得的,我们发现的染色体不稳定似乎是该综合征总体状况的一部分。