BRAF V600E 突变分析简化了林奇综合征的检测算法。
BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.
机构信息
Department of Pathology, Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
出版信息
Am J Clin Pathol. 2013 Aug;140(2):177-83. doi: 10.1309/AJCPB9FOVH1HGKFR.
OBJECTIVES
To evaluate our experience of adding reflex BRAF mutation analysis following mismatch repair (MMR) protein staining in the test algorithm for Lynch syndrome (LS), the most common inherited predisposition to colorectal cancer (CRC).
METHODS
Since January 1, 2009, BRAF V600E mutation analysis has been performed at our institution for all newly diagnosed CRCs with absent MLH1 and PMS2 proteins.
RESULTS
Ninety (22%) of 412 patients with CRC had at least 1 MMR absent (65 had MLH1 and PMS2 absent and 25 had other stain(s) absent). BRAF mutation was found in 36 (55%) of 65. Fifty-four (13%) of 412 patients required follow-up after addition of BRAF analysis compared with 90 who would have required follow-up without BRAF analysis.
CONCLUSIONS
The addition of reflex BRAF mutation testing in CRCs with absent MLH1 and PMS2 reduced the number of patient contacts by 40% and simplified the genetic testing for LS, leading to cost and time savings.
目的
评估我们在林奇综合征（LS）检测算法中增加错配修复（MMR）蛋白染色后进行 BRAF 反射突变分析的经验，LS 是结直肠癌（CRC）最常见的遗传易感性。
方法
自 2009 年 1 月 1 日起，我们机构对所有新诊断的 CRC 中 MLH1 和 PMS2 蛋白缺失的患者进行 BRAF V600E 突变分析。
结果
在 412 例 CRC 患者中，有 90 例（22%）至少有一种 MMR 缺失（65 例 MLH1 和 PMS2 缺失，25 例其他染色缺失）。在 65 例 MLH1 和 PMS2 缺失的患者中，发现 BRAF 突变 36 例（55%）。与不进行 BRAF 分析需要随访 90 例相比，添加 BRAF 分析后需要随访的患者为 54 例（13%）。
结论
在 MLH1 和 PMS2 缺失的 CRC 中增加反射 BRAF 突变检测可将患者接触次数减少 40%，并简化 LS 的基因检测，从而节省成本和时间。
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