Saldanha G
Breast Cancer Research Unit, Clinical Sciences Building, Glenfield Hospital, Groby Road, Leicester, LE3 9QP, UK.
J Pathol. 2001 Apr;193(4):427-32. doi: 10.1002/1096-9896(2000)9999:9999<::AID-PATH815>3.0.CO;2-N.
The Hedgehog signalling pathway is important in embryological development and is highly conserved through evolution. Recently Patched, a member of the pathway, was found to be important in Gorlin's syndrome. Inherited Patched gene mutations underlie the syndrome, in which a key feature is multiple basal cell carcinomas (BCCs). The gene is also mutated in sporadic BCCs as well as in sporadic occurrences of other tumours seen in Gorlin's syndrome. The precise mechanism whereby Patched gene mutation leads to tumour development is not known, but BCC is characterized by relentless local invasion and only rarely metastasizes. This suggests that abnormalities of the Hedgehog pathway account for these features. This proposal is discussed in the context of what is already known about the normal function of the Hedgehog pathway and its deregulation in cancer.
刺猬信号通路在胚胎发育中很重要，并且在进化过程中高度保守。最近发现该通路的成员Patched在戈林综合征中很重要。遗传性Patched基因突变是该综合征的基础，其一个关键特征是多发性基底细胞癌（BCC）。该基因在散发性BCC以及戈林综合征中出现的其他散发性肿瘤中也发生突变。Patched基因突变导致肿瘤发生的确切机制尚不清楚，但BCC的特征是持续的局部侵袭，很少发生转移。这表明刺猬通路的异常导致了这些特征。本文在已知的刺猬通路正常功能及其在癌症中的失调的背景下讨论了这一观点。
