Ferguson-Smith Malcolm A, Goudie David R
Department of Veterinary Medicine, University of Cambridge, Madingley Road, Cambridge CB3 0ES, UK.
Human Genetics Unit, University of Dundee College of Medicine, Dentistry and Nursing, Ninewells Hospital, Dundee, UK.
Int J Biochem Cell Biol. 2014 Aug;53:520-5. doi: 10.1016/j.biocel.2014.04.007. Epub 2014 Apr 18.
Multiple self-healing squamous epithelioma (MSSE) is a rare familial skin cancer in which multiple tumours resembling crateriform squamous carcinomas are locally invasive but regress spontaneously after several months, leaving deep disfiguring facial scars and shallower scars on the limbs. First identified in a number of Scottish families, the condition has since been reported more widely. We review here the investigations leading to the discovery of loss of function mutations in TGFBR1 that are responsible for the disease. Loss of heterozygosity in tumours reveals that TGFBR1 acts as a tumour suppressor gene. TGFBR1 was initially excluded as the MSSE gene because it lies outside an extensive chromosome 9 haplotype shared by Scottish families. MSSE can now be regarded as a digenic/multilocus disease in view of the evidence of a second linked locus necessary for pathogenesis located within the Scottish haplotype. This article is part of a Directed Issue entitled: Rare Cancers.
多发性自愈性鳞状上皮瘤（MSSE）是一种罕见的家族性皮肤癌，其中多个类似火山口状鳞状癌的肿瘤具有局部侵袭性，但数月后会自发消退，在面部留下严重毁容的疤痕，在四肢留下较浅的疤痕。该病最初在一些苏格兰家族中被发现，此后有了更广泛的报道。我们在此回顾了导致发现与该病相关的TGFBR1功能丧失突变的研究。肿瘤中的杂合性缺失表明TGFBR1作为一种肿瘤抑制基因发挥作用。TGFBR1最初被排除在MSSE基因之外，因为它位于苏格兰家族共有的9号染色体广泛单倍型之外。鉴于位于苏格兰单倍型内的第二个致病相关连锁位点的证据，MSSE现在可被视为一种双基因/多位点疾病。本文是名为：罕见癌症的定向问题的一部分。
