Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours
Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours
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DOI：
10.1136/jcp.54.9.689
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发表时间：
2001-09-01
影响因子：
3.4
通讯作者：
Lakhani, SR
中科院分区：
文献类型：
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作者：
Leonard, N;Chaggar, R;Lakhani, SR
目的：家族性圆柱状细胞瘤病(CyLD)的基因已定位于染色体16q，并于最近被克隆。16Q杂合性缺失(LOH)也在散发性圆柱瘤中被证实。方法：对55例皮肤附件肿瘤(12种不同类型)和14例鳞状细胞癌(SCC)和14例基底细胞癌(BCC)进行研究。3个微卫星(D16S407(16p)、D16S304(16q)和D16S308(16q))在石蜡包埋切片上进行激光捕获显微切割后进行杂合性缺失分析。结果与以前的数据一致，部分圆柱体在16q的标记上显示杂合性缺失，而在16p上没有。类似的皮肤附件肿瘤包括大汗腺水囊瘤、小汗腺螺旋腺瘤和皮脂腺瘤。1例汗管瘤在16q出现杂合性缺失，另一例在16p出现杂合性缺失，但未发现16q。1例小汗腺水囊肿在16P处出现丢失，但在16Q处未见丢失。其余的肿瘤要么是阴性的，要么是不具信息性的。对照组所有肿瘤均为阴性或无信息性，仅1例基底细胞癌在16q出现杂合性缺失。结论：CyLD可能参与了皮肤附属器肿瘤的发生。
Aim-The gene for familial cylindromatosis (CYLD) has been localised to chromosome 16q, and has recently been cloned. Loss of heterozygosity (LOH) at 16q has also been demonstrated in sporadic cylindromas. The aim of this study was to investigate whether CYLD plays a role in the development of other skin appendage tumours.Methods-A total of 55 cases of skin adnexal tumours, comprising 12 different types, and a control group of 14 squamous cell carcinomas (SCCs) and basal cell carcinomas (BCCs) were studied. Three microsatellites (D16S407 (16p), D16S304 (16q), and D16S308 (16q)) were analysed for LOH after microdissection from paraffin wax embedded sections using laser capture microdissection.Results-In keeping with previous data, a proportion of cylindromas exhibited LOH at markers on 16q, but not at 16p. The skin adnexal tumours showing a similar pattern included apocrine hydrocystomas, eccrine spiradenomas, and sebaceous adenoma. One case of syringoma showed LOH at 16q, and a further case at 16p, but not 16q. One case of eccrine hydrocystoma showed loss at 16p, but not 16q. The remaining tumours were either negative or non-informative. All tumours in the control group were either negative or non-informative, except for a single case of BCC showing LOH at 16q.Conclusion-CYLD may be involved in the development of skin adnexal tumours other than cylindromas.