日光暴露皮肤散发性基底细胞癌中的紫外线特异性p53和PTCH突变

UV-specific p53 and PTCH mutations in sporadic basal cell carcinoma of sun-exposed skin.

作者信息

Ratner D, Peacocke M, Zhang H, Ping X L, Tsou H C

机构信息

Department of Dermatology, College of Physicians and Surgeons of Columbia University, New York, Ny, USA.

出版信息

J Am Acad Dermatol. 2001 Feb;44(2):293-7. doi: 10.1067/mjd.2001.112361.

DOI:10.1067/mjd.2001.112361

PMID:11174390

Abstract

UVB irradiation is known to produce DNA damage at mutation hotspots in the p53 tumor suppressor gene, leading to the development of skin cancers. Mutations in the PTCH tumor suppressor gene, which is known to be responsible for the development of nevoid basal cell carcinoma syndrome, have also been identified in sporadic basal cell carcinomas (BCCs). We describe the case of an 80-year-old welder in whom 3 novel p53 mutations, as well as UV-specific PTCH mutations, were detected in two BCC samples from sun-exposed skin. The simultaneous presence of UV-specific p53 and PTCH mutations in the same BCC sample has not previously been reported.

摘要

已知紫外线B（UVB）照射会在p53肿瘤抑制基因的突变热点处造成DNA损伤，进而导致皮肤癌的发生。在散发性基底细胞癌（BCC）中也发现了PTCH肿瘤抑制基因突变，该基因被认为与痣样基底细胞癌综合征的发生有关。我们报告了一例80岁焊工的病例，在其暴露于阳光的皮肤的两个BCC样本中检测到3种新的p53突变以及紫外线特异性PTCH突变。此前尚未报道过在同一BCC样本中同时存在紫外线特异性p53和PTCH突变的情况。