高雄醫師會誌96期-病例討論~蘇偉智、王照元-遺傳性非肉瘜症結直腸癌(Hereditarynonpolyposiscolorectalcancer)--Lynch syndrome之病例報告
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病例討論~蘇偉智、王照元-遺傳性非肉瘜症結直腸癌(Hereditarynonpolyposiscolorectalcancer)--Lynch syndrome之病例報告
![15%
20%
(FAP, Familial adenomatous
polyposis)
(HNPCC Hereditary
non-polyposis colorectal cancer)
Lynch (syndrome) [1]
Lynch
2%-4% [2,3]
(
) 44 61
[4]
HNPCC
2004
Bethesda
Lynch Lynch
Lynch
MMR
(mismatch repair gene)
MMR
MLH1 MSH2 MSH6 PMS2
EPCAM MMR](https://image.slidesharecdn.com/318hereditarynonpolyposiscolorectalcancer-170809081146/85/96-Hereditarynonpolyposiscolorectalcancer-Lynch-syndrome-1-320.jpg)
![Lynch
( ) ( )
( )
[1]
Lynch
[5]
42
2016/5/21
pT3N1bM0
2016/6/20
5 FOLFOX
2016/8/25
S6 S5
2016/9/21
( )
5
2
S8 S6
2016/10/4
cT3N1M0 STAGE 3B( )
2016/10/5 2017/01/11
6 FOLFOX
2017/01/19](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)
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高雄醫師會誌96期-病例討論~蘇偉智、王照元-遺傳性非肉瘜症結直腸癌(Hereditarynonpolyposiscolorectalcancer)--Lynch syndrome之病例報告
- 1. 15% 20% (FAP, Familial adenomatous polyposis) (HNPCC Hereditary non-polyposis colorectal cancer) Lynch (syndrome) [1] Lynch 2%-4% [2,3] ( ) 44 61 [4] HNPCC 2004 Bethesda Lynch Lynch Lynch MMR (mismatch repair gene) MMR MLH1 MSH2 MSH6 PMS2 EPCAM MMR
- 2. Lynch ( ) ( ) ( ) [1] Lynch [5] 42 2016/5/21 pT3N1bM0 2016/6/20 5 FOLFOX 2016/8/25 S6 S5 2016/9/21 ( ) 5 2 S8 S6 2016/10/4 cT3N1M0 STAGE 3B( ) 2016/10/5 2017/01/11 6 FOLFOX 2017/01/19
- 3. ( ) 2017/02/01 ypT2N0M0 2017/4/1 DNA (Microsatellite instability analysis) (deletion) MSH2(hMSH2) MSH6(hMSH6) 2p15 APC 5q22-23 BRCA1 TP53 17q12 ( ) Lynch Lynch (metachronous) Lynch 1~2 MSH6 PMS2 [6,7] 30 1997 Bethesda Bethesda [1] Lynch (1) 50 (2) 2 Lynch (3)60
- 4. (4) 50 Lynch (5) 2 Lynch Lynch 1. 衛生福利部國民健康署 - 遺傳疾病諮詢服 務窗口 – Lynch Syndrome https://gene.hpa. gov.tw/index.php?mo=DiseasePaper&action =paper1_show&cate=Set1&csn=70&sn=311 (Accessed on 5th June 2017) 2. Jasperson KW, Tuohy TT, Neklason DW, et al. Hereditary and familial colon cancer. Gastroenterology. 2010;138:2044–2058. 3. Lynch HT, de la Chapelle A. Hereditary c o l o r e c t a l c a n c e r. N E n g l J M e d . 2003;348:919–932. 4. Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin JP, de la Chapelle A. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology. 2005; 129:415–421. 5. Kastrinos F, Stoffel EM. History, Genetics, and Strategies for Cancer Prevention in Lynch Syndrome. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. 2014;12(5):715-727. 6. Baglietto L, Lindor NM, Dowty JG et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 2010;102:193–201. 7. Senter L, Clendenning M, Sotamaa K et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419–428.