臨床外科65巻11号

2010年10月発行

特集 外科医のための大腸癌の診断と治療

3．特殊な大腸癌の病態と治療方針

家族性大腸腺腫症

著者： 小泉浩一¹

所属機関： ¹がん・感染症センター都立駒込病院内視鏡科

ページ範囲：P.122 - P.131

文献概要

■100個以上の腺腫性ポリープを認め，APC遺伝子変異が認められれば家族性大腸腺腫症と確定診断されるが，鑑別すべき疾患がある．

■治療の原則は大腸全摘術である．ポリープの数と大きさによっては，当面は手術的治療を待機できる可能性がある．

■大腸病変以外に，術後のデスモイド腫瘍や十二指腸腫瘍が高頻度に発生する．全身疾患としての管理が必要である．

参考文献

1）Kinzler KW, Nilbert MC, Su LK, et al：Identification of FAP locus genes from chromosome 5q21. Science 253：661-665, 1991

2）Nisisho I, Nakamura Y, Miyoshi Y, et al：Mutations of Chromosome 5q21 genes in FAP patients and colorectal patients. Science 253：665-669, 1991

3）Bisgaard ML, Fenger K, Bulow S, et al：Familial adenomatous polyposis（FAP）：frequency, penetrance, and mutation rate. Hum Mutat 3：121-125, 1994

4）Bussey HJR：Familial polyposis coli：Family studies. Histopathology, Differential Diagnosis, and Results of Treatment. Baltimore, The Johns Hopkins University Press, 1975

5）Iwama T, Mishima Y, Utunomiya J：The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 217：101-108, 1993

6）山田　粛，高橋　孝：家族性大腸ポリポージス．癌の臨 17：676-686，1971

7）岩間毅夫：大腸腺腫症の病理形態的研究．日外会誌 79：10-24，1978

8）三木義男，宇都宮譲二，黒木輝幸，他：特殊な消化管ポリープ，大腸腺腫症―疫学と臨床．臨科学 23：318-331，1987

9）Iwama T, Tamura K, Morita T, et al：A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan. Int J Clin Oncol 9：308-316, 2004

10）Vasen HFA, Möslein G, Alonso A, et al：Guidelines for the clinical management of familial adenomatous polyposis（FAP）. Gut 57：704-713, 2008

11）Filipe B, Baltazar C, Albuquerque C, et al：APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Clin Genet 76：242-255, 2009

12）Nagase H, Miyoshi Y, Horii A, et al：Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 52：4055-4057, 1992

13）Nugent KP, Phillips RK, Hodgson SV et al：Phenotypic expression in familial adenomatous polyposis：partial prediction by mutation analysis. Gut 35：1622-1623, 1994

14）Friedl W, Caspari R, Sengteller M, et al：Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 48：515-521, 2001

15）Caspari R, Friedl W, Mandl M, et al：Familial adenomatous polyposis：mutation at codon 1309 and early onset of colon cancer. Lancet 343：629-632, 1994

16）Wu JS, Paul F, McGannon EA, et al：APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann Surg 227：57-62, 1998

17）Leppert M, Burt R, Hughes JP, et al：Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med 322：904-908, 1990

18）Lynch HT, Smyrk T, McGinn T, et al：Attenuated familial adenomatous polyposis（AFAP）. A phenotypically and genotypically distinctive variant of FAP see comments. Cancer 76：2427-2433, 1995

19）Burt RW, Leppert MF, Slattery ML, et al：Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 127：444-451, 2004

20）Aretz S, Stienen D, Friedrichs N, et al：Somatic APC mosaicism：a frequent cause of familial adenomatous polyposis（FAP）. Hum Mutat 28：985-992, 2007

21）Hes FJ, Nielsen M, Bik EC, et al：Somatic APC mosaicism：an underestimated cause of polyposis coli. Gut 57：71-76, 2008

22）Al-Tassan N, Chmiel NH, Maynard J, et al：Inherited variants of MYH associated with somatic G：C T：A mutations in colorectal tumors. Nat Genet 30：227-232, 2002

23）Sampson J, Doiwani S, Jones S, et al：Autosomal recessive colorectal adenomatous polyposis due to inherited mutation of MYH. Lancet 362：39-41, 2003

24）Nielsen M, Franken PF, Reinards TH, et al：Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with M YH associated polyposis coli（MAP）. J Med Genet 42：e54, 2005

25）Lefevre JH, Rodrigue CM, Mourra N, et al. Imprication of MYH in colorectal polyposis. Ann Surg 244：874-880, 2006

26）Fornasarig M, Minisini AM, Viel A, et al：Twelve years of endoscopic surveillance in a family carrying biallelic Y165C MYH defect：report of a case. Dis Colon Rectum 49：1-4, 2006

27）丸山雅一，佐々木喬敏，岡田隆雄，他：家族性大腸腺腫症の経過観察におけるポリープの形態学的変化．胃と腸 19：639-658，1984

28）狩谷　淳，水野幸一，間山素行，他：Ⅱc型早期大腸癌が認められた家族性大腸ポリポーシスの一例．胃と腸 12：1359-1364，1977

29）Utsunomiya J, Maki T, Iwama T, et al：Gastric lesion of familial polyposis coli. Cancer 34：745-754, 1974

30）Iida M, Yao T, Itoh H, et al：Natural history of duodenal lesion in Japanese patients with familial adenomatosis coli（Gardner's syndrome）. Gastroenterology 96：1301-1306, 1989

31）Gardner EJ：Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet 14：376-390, 1962

32）Gurbuz AK, Giardiello FM, Petersen GM, et al：Desmoid tumours in familialadenomatous polyposis. Gut 35：377-381, 1994

33）Iwama T, Mishima Y, Okamoto N, et al：Association of congenital hypertrophy of the retinal pigment epithelium with familial adenomatous polyposis. Br J Surg 77：273-276, 1990

34）小泉浩一，風見明，坂井雄三，他：家族性大腸腺腫症の大腸病変．胃と腸 35：319-326，2000

35）Filipe B, Baltazar C, Albuquerque C, et al：APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Clin Genet 76：242-255, 2009

36）Arvanitis ML, Jagelman DG, Fazio VW, et al：Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 33：639-642, 1990

37）Nugent KP, Spigelman AD, Phillips RK：Life Expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum 36：1059-1062, 1993

38）Lynch PM：Prevention of colorectal cancer in high-risk populations：the increasing role for endoscopy and chemoprevention in FAP and HNPCC. Digestion 76：68-76, 2007

39）Giardiello FM, Yang VW, Hylind LM, et al：Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 346：1054-1059, 2002

40）Steinbach G, Lynch PM, Phillips RK, et al：The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 342：1946-1952, 2000

41）Uragami N, Koizumi K, Chino A, et al：Cancer in familial adenomatous polyposis. Gastrointest Endosc. 61：104, 2005

42）Debinski HS, Love S, Spigelman AD, et al：Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology 110：1028-1030, 1996

43）Sturt NJ, Gallagher MC, Bassett P, et al：Evidence for genetic predisposition to desmoid tumors in familial adenomatous polyposis independent of the germline APC mutation. Gut 53：1832-1836, 2004

44）Church J, Simmang C：Practice parameters for the treatment of patients with dominantly inherited colorectal cancer（familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer）. Dis Colon Rectum 46：1001-1012, 2003

45）Gorgun E, Remzi FH, Goldberg JM, et al：Fertility is reduced after restorative proctocolectomy with ileal pouch anal anastomosis：a study of 300 patients. Surgery 136：795-803, 2004

46）Aziz O, Athanasiou T, Fazio VW, et al：Meta-analysis of observational studies of ileorectal versus ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg 93：407-417, 2006

47）Setti-Carraro P, Nicholls RJ：Choice of prophylactic surgery for the large bowel component of familial adenomatous polyposis. Brit J Surg 83：885-892, 1996

48）Bülow S, Bülow C, Vasen H, et al：Colectomy and ileorectal anastomosis is still an option for selected patients with familial adenomatous polyposis. Dis Colon Rectm 51：1318-1323, 2008

49）Church J：In which patients do I perform IRA, and why? Fam Cancer 5：237-240, 2006

50）Vasen HF, van Duijvendijk P, Buskens E, et al：Decision analysis in the surgical treatment of patients with familial adenomatous polyposis：a Dutch-Scandinavian collaborative study including 659 patients. Gut 49：231-235, 2001

51）Parc Y, Piquard A, Dozois RR, et al：Long-term outcome of familial adenomatous polyposis patients after restorative coloproctectomy. Ann Surg 239：378-382, 2004

52）Ault GT, Nunoo-Mensah JW, Johnson L, et al：Adenocarcinoma arising in the middle of ileoanal pouches：report of five cases. Dis Colon Rectum 52：538-541, 2009

53）von Duijvendijk P, Vasen HF, Bertario L, et al：Cumulative risk of developing polyps or malignancy at the ileal pouch-anal anastomosis in patients with familial adenomatous polyposis. J Gastrointest Surg 3：325-330, 1999

54）Belchetz LA, Berk T, Bapat BV, et al：Changing causes of mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 39：384-387, 1996

55）Sturt NJ, Gallagher MC, Bassett P, et al：Evidence for genetic predisposition to desmoid tumors in familial adenomatous polyposis independent of the germline APC mutation. Gut 53：1832-1836, 2004

56）Bülow S：Results of national registration of familial adenomatous polyposis. Gut 52：742-746, 2003

57）Speake D, Evans DG, Lalloo F, et al：Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. Br J Surg 94：1009-1013, 2007

58）馬塲正三，小里俊幸：家族性大腸腺腫症における長期経過からみたデスモイド腫瘍の取り扱い．胃と腸 32：577-584，1997

59）Hansmann A, Adolph C, Vogel T, et al：High-dose tamoxifen and sulindac as first-line treatment for desmoid tumors. Cancer 100：612-620, 2004

60）Gega M, Yanagi H, Yoshikawa R, et al：Successful chemotherapeutic modality ofdoxorubicin plus dacarbazine for the treatment of desmoid tumors in association with familial adenomatous polyposis. J Clin Oncol 24：102-105, 2006

61）Spigelman AD, Williams CB, Talbot IC, et al：Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 30：783-785, 1989

62）Vasen HF, Bulow S, Myrhoj T, et al：Decision analysis in the management of duodenal adenomatosis in familial adenomatous polyposis. Gut 40：716-719, 1997

63）Groves CJ, Saunders BP, Spigelman AD, et al：Duodenal cancer in patients with familial adenomatous polyposis（FAP）：results of a 10 year prospective study. Gut 50：636-641, 2002

64）Offerhaus GJ, Giardiello FM, Krush AJ, et al：The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 102：1980-1982, 1992

65）Brosens LA, Keller JJ, Offerhaus GJ, et al：Prevention and management of duodenal polyposis in familial adenomatous polyposis. Gut 54：1034-1043, 2005

66）Pandolfi M, Martino M, Gabbrielli A：Endoscopic treatment of ampullary adenomas. J Pancreas 9：1-8, 2008

67）Ouaïssi M, Panis Y, Sielezneff I, et al：Long-Term Outcome After Ampullectomy for Ampullary Lesions Associated With Familial Adenomatous Polyposis. Dis Colon Rectum 48：2192-2196, 2005

68）Vasen HFA, Möslein G, Alonso A, et al：Guidelines for the clinical management of familial adenomatous polyposis（FAP）. Gut 57：704-713, 2008