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

2 Evidence-based medicine EBM 3 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

3 Mismatch repair 23742 : 885 7417 930 14510 4 . 5

4 6 7

5 8 familial adenomatous polyposis, FAP 1. 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.

8 MAP DNA MUTYH 15) 100 100 1,000 16) 60 100% 17) FAP AFAP 14 (1) (2) ( ) (3) 9 3 18), 19) CQ4 20 CQ5 FAP 3 FAP 15 FAP CQ6 non-steroidal anti-inflammatory drugs, NSAIDs CQ7 FAP FAP FAP CT MRI 2 3 16

9 CQ8 2 3 cm 53 75% 20)-22) 23), 24) 7 14% 2 3 4 FAP 17 4 25) [ ] FAP CQ9 CQ10 CQ11.

10 CQ12 [ ] 2 3 20), 26) CQ13 [ ] CQ14 CQ15 1