Colling Richard, Church David N, Carmichael Juliet, Murphy Lucinda, East James, Risby Peter, Kerr Rachel, Chetty Runjan, Wang Lai Mun
Nuffield Division of Clinical Laboratory Sciences, University of Oxford, Oxford, UK.
Oxford Cancer Centre, University of Oxford, Oxford, UK.
J Clin Pathol. 2015 Dec;68(12):1036-9. doi: 10.1136/jclinpath-2015-203083. Epub 2015 Jul 22.
Lynch syndrome (LS) accounts for around 3% of colorectal cancers (CRCs) and is caused by germline mutations in mismatch repair (MMR) genes. Recently, screening strategies to identify patients with LS have become popular. We audited CRCs screened with MMR immunohistochemistry (IHC) in 2013. 209 tumours had MMR IHC performed at a cost of £12 540. 47/209 (21%) cases showed IHC loss of expression in at least one MMR protein. 28/44 cases with loss of MLH1 had additional BRAF V600E testing, at a cost of £5040. MMR IHC reduced the number of potential clinical genetics referrals from 209 to 47. BRAF mutation testing, performed in a subset of cases with MLH1 loss, further reduced this to 21. At a cost of £1340 per referral, this model of LS screening for clinical genetics referral had significant potential savings (£234 340) and can be easily implemented in parallel with MMR IHC done for prognostication in CRCs.
林奇综合征（LS）约占结直肠癌（CRC）的3%，由错配修复（MMR）基因的种系突变引起。最近，识别LS患者的筛查策略已变得流行。我们审核了2013年采用MMR免疫组化（IHC）筛查的CRC病例。209个肿瘤进行了MMR IHC检测，花费12540英镑。47/209（21%）的病例显示至少一种MMR蛋白的IHC表达缺失。28/44例MLH1缺失的病例进行了额外的BRAF V600E检测，花费5040英镑。MMR IHC将潜在的临床遗传学转诊病例数从209例减少到47例。在一部分MLH1缺失的病例中进行的BRAF突变检测，进一步将其减少到21例。以每次转诊1340英镑的成本计算，这种用于临床遗传学转诊的LS筛查模式有显著的潜在节省（234340英镑），并且可以很容易地与为CRC预后进行的MMR IHC并行实施。
