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題名 | Identification and Management of Lynch Syndrome=林奇症的診斷及處理 |
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作者 | 張世慶; | 書刊名 | 臺灣外科醫學會雜誌 |
卷期 | 42:2 2009.03-04[民98.03-04] |
頁次 | 頁65-71 |
分類號 | 416.245 |
關鍵詞 | 林奇症; 大腸直腸癌; 基因突變; Colorectal cancer; Lynch syndrome; Microsatellite instability; |
語文 | 英文(English) |
中文摘要 | 在西方國家大腸直腸癌高居癌症死亡率第二位,在臺灣近年來的統計數據顯示每年新增病例約7,500例。而遺傳性大腸直腸癌約佔所有大腸直腸癌的3%,包括二大類:家族性大腸息肉症,遺傳性非息肉大腸直腸癌(HNPCC)。 HNPCC或叫Lynch syndrome爲顯性遺傳疾病約佔所有大腸直腸癌百分之二左右。它不像家族性大腸息肉症狀的特性那麼明顯。但仍有特定的病理特徵,如癌症診斷發現年齡約45歲左右。癌症出現位置主要爲右側,分化不佳,癌組織中有淋巴球浸潤等。在遺傳性非息肉大腸直腸癌(HNPCC)約90%會出現MSI,而10-15%的偶發性大腸直腸癌會有此現象。微衛星DNA爲重覆數十次的一至五個連續序列DNA散佈在人類基因體中,因爲其連續相似性,所以在DNA複製時容易出錯。複製錯誤時,須靠修補(mismatch repair)蛋白質來修復,若是此蛋白質功能不足,錯誤就會累積,稱爲微衛星不穩定,mismatch repair蛋白質中已知有MSH2,MLHI,PMS2,及MSH6和Lynch syndrome有關,其中以MSH2及MLH1爲主。篩檢出Lynch syndrome的家族,及其基因突變位置可以提供家族成員癌症發生的可能性及相關預防方法。目前符合Amsterdam定義或Revised Bethesda criteriath的病患需做基因篩檢,首先以MSI或是免疫染色爲第一線篩檢工具,有問題的病患,接著須作基因定序以確認突變位置。 |
英文摘要 | The Lynch syndrome, (also as hereditary nonpolyposis colorectal cancer) is an autosomal dominant disease, caused by germline mutations in four mismatch repair (MMR) genes (MSH2, MLH1, PMS2, and MSH6), most notably MLH1 or MSH2, Tumors caused by loss of mismatch repair gene function exhibit frequent errors in microsatellite DNA, short segments of DNA containing 1~6 repeats of nucleotides, and are thus said to exhibit microsatellite instability (MSI). Ninety percent of colon cancers associated with Lynch syndrome show MSI, while only 15% sporadic CRCs have MSI, caused mainly by hypermethylation of MLH1 promoter. Unlike familial adenomatous polyposis, clinical features of the Lynch syndrome are not so unique. However, the Lynch syndrome could be suspected at a relatively early age at onset of CRC, on account of a higher incidence of synchronous and metachronous CRCs, a predilection for the proximal colon, and specific pathologic findings including tumor-infiltrating lymphocytes, signet ring cells, or a strong mucinous component. Although the Lynch syndrome accounts for only 2 to 5% of all colorectal cancer patients, the identification of this syndrome is clinically relevant. Aggressive surveillance including colonoscopy for patients with Lynch syndrome and their relatives could prevent cancer development and reduce mortality. Currently, patients fulfilling the Amsterdam II/Revised Bethesda criteria are suggested to receive MSI and/or IHC analysis of the tumor. Mutation analysis should be offered in those with evidence of MSI or loss of MMR expression. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。