Transcription of 遺伝性大腸癌診療ガイドライン（案） - JSCCR
1 1 I. II. 2 : hereditary non- polyposis colorectal cancer : HNPCC (familial adnomatous polypsis: FAP) 100 FAP 4 HNPCC 2 2002 5 HNPCC 2007 evidence-based medicine EBM 3
2 EBM clinical question CQ CQ . A B 3 D C D A B C 4 D PubMed 2011 3 familial adenomatous polyposis Lynch syndrome hereditary non- polyposis colorectal cancer microsatellite instability mismatch repair 23742.
3 885 7417 930 14510 4 . 5
4 6 7 8 familial adenomatous polyposis , FAP 1.
5 Familial adenomatous polyposis : FAP APC 100% [ ] 10 40 50% 60 100% 1) FAP 2) 1 FAP 1 2 FAP 1 FAP 9 [ ] 5 APC [ ] [ ] APC (allele) APC two-hit (multi-hit theory multistage model) 3) 1 FAP [ ] 1:10,000 1:20,000 1:17,400 4) ( ) FAP APC FAP APC DNA 1 (deletion) (insertion) APC (truncated protein 10 2.
6 2 FAP 1) FAP 5) (1) (2) FAP (1) 100 (2) 100 FAP APC FAP 100 FAP MUTYH FAP FAP 20 30% APC 6) CQ1 attenuated FAP AFAP MUTYH APC CQ1 11 2 FAP FAP attenuated FAP FAP FAP FAP APC FAP(severe/profuse/dense FAP) 3 FAP(classical/typical FAP) 100 4 AFAP(attenuated FAP) 1 10 100 CQ2 attenuated FAP FAP FAP FAP FAP APC exon 15 codon 1250 1464 codon 1309 7), 8) AFAP 5 exon 5 exon 9 exon 15 3 9) codon 1309 10) 3 FAP 4 FAP 5,000 11) FAP >2,000 100~2,000 FAP AFAP(attenuated FAP) 10 99 12)
7 12 3 2 FAP 5 6 7 FAP 8 CQ3 5 6 13 7 8 Gardner Gardner FAP APC FAP Turcot type 2 APC Turcot type 2 Turcot type 1 4 APC APC APC FAP APC FAP 4% APC FAP 11 20% 13), 14) FAP MUTYH MUTYH associated polyposis : MAP DNA MUTYH 15) 100 100 1,000 16) 60 100% 17) FAP AFAP 14 (1) (2) ( ) (3) 9 3 18), 19)
8 CQ4 20 CQ5 FAP 3 FAP 15 FAP CQ6 non-steroidal anti-inflammatory drugs, NSAIDs CQ7 FAP FAP FAP CT MRI 2 3 16 CQ8 2 3 cm
9 53 75% 20)-22) 23), 24) 7 14% 2 3 4 FAP 17 4 25) [ ] FAP CQ9 CQ10 CQ11. CQ12 [ ] 2 3 20), 26) CQ13 [ ] CQ14 CQ15 1 FAP 27),28)
10 10 FAP 2 3 35 FAP CQ15 APC 18 10 FAP 19 CQ1 FAP APC B APC 1 FAP 2 APC 3 AFAP MUTYH 1 FAP FAP APC 29) 2. APC APC FAP 3 AFAP MUTYH AFAP 100 30 APC 100 MUTYH APC MUTYH MUTYH FAP APC APC FAP 70% AFAP 10% 30) APC APC FAP MUTYH 31) 10 mL 20 CQ2 Attenuated FAP(AFAP)
