遺伝性非ポリポーシス大腸癌の診断, 治療および予後
遺伝性非ポリポーシス大腸癌(Hereditary Nonpolyposis Colorectal Cancer: HNPCC)は常染色体優生遺伝性疾患で, 若年で発症し, 右側結腸に好発し, 多発癌や重複癌が多く, 予後は比較的良好である. 家族性大腸腺腫症(Familial Adenomatous Polyposis: FAP)のようにポリープが密生するような形質発現がなく, 診断には詳細な家族歴の聴取が必要である. HNPCC患者では2次癌の発生頻度が高く, 2次癌の発見のために厳重な経過観察が大切である. 最近HNPCCの原因遺伝子の解析が進み, HNPCCはミスマッチ修復遺伝子の変異に...
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| Published in | 医療 Vol. 52; no. 10; pp. 587 - 590 |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | Japanese |
| Published |
一般社団法人 国立医療学会
1998
国立医療学会 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0021-1699 1884-8729 |
| DOI | 10.11261/iryo1946.52.587 |
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| Abstract | 遺伝性非ポリポーシス大腸癌(Hereditary Nonpolyposis Colorectal Cancer: HNPCC)は常染色体優生遺伝性疾患で, 若年で発症し, 右側結腸に好発し, 多発癌や重複癌が多く, 予後は比較的良好である. 家族性大腸腺腫症(Familial Adenomatous Polyposis: FAP)のようにポリープが密生するような形質発現がなく, 診断には詳細な家族歴の聴取が必要である. HNPCC患者では2次癌の発生頻度が高く, 2次癌の発見のために厳重な経過観察が大切である. 最近HNPCCの原因遺伝子の解析が進み, HNPCCはミスマッチ修復遺伝子の変異によることが判ってきた. 将来は遺伝子による診断が一般化されることが期待されている. |
|---|---|
| AbstractList | 遺伝性非ポリポーシス大腸癌(Hereditary Nonpolyposis Colorectal Cancer: HNPCC)は常染色体優生遺伝性疾患で, 若年で発症し, 右側結腸に好発し, 多発癌や重複癌が多く, 予後は比較的良好である. 家族性大腸腺腫症(Familial Adenomatous Polyposis: FAP)のようにポリープが密生するような形質発現がなく, 診断には詳細な家族歴の聴取が必要である. HNPCC患者では2次癌の発生頻度が高く, 2次癌の発見のために厳重な経過観察が大切である. 最近HNPCCの原因遺伝子の解析が進み, HNPCCはミスマッチ修復遺伝子の変異によることが判ってきた. 将来は遺伝子による診断が一般化されることが期待されている. |
| Author | 友田, 博次 |
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| References | 6) Leach FS, Nicolaides NC, Papadopoulos N et al: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer, Cell 75: 1215-1225, 1993 25) Tomoda H, Baba H, Oshiro T et al: Clinical manifestations in patients with hereditary nonpolyposis colorectal cancer, J Surg Oncol 61 262-266, 1996 4) Bronner CE, Baker SM, Morrison PT et al: Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer, Nature 368: 258-261, 1994 27) Ionov YM, Peinado A, Malkhosyan S et al: Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis, Nature 363: 558-561, 1993 12) Fitzgibbons RJ, Lynch HT : Recognition and treatment of patients with hereditary non-polyposis colon cancer, Ann Surg 206: 289-295, 1987 14) Watson P, Lynch HT: Extracolonic cancer in hereditary nonpolyposis colorectal cancer, Cancer 71: 677-685, 1993 5) Nicolaides NC, Papadopoulos N, Liu B et al: Mutations of two PMS homologues in hereditary nonpolyposis colon cancer, Nature 371: 75-80, 1994 18) Kim H, Jen V, Vogelstein B et al: Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequencies (abstr), Am J Pathol 145: 148-156, 1994 19) Liu B, Parsons RE, Hamilton SR et al: hMSH 2 mutations in hereditary nonpolyposis colorectal cancer kindreds, Cancer Res 54: 4590-4594, 1994 13) Lynch HT, Lanspa SJ, Boman BM et al: Hereditary non-polyposis colorectal cancer-Lynch syndromes I and II, Gastroenterol Clin North Am 17: 679-712, 1988 28) 森正樹, 中島秀彰, 三森功士ほか: DNAミスマッチ修復遺伝子異常とreplication error消化器癌におけるgenetic instabilityの臨床的意義食道癌・胃癌・大腸癌, 日臨 54: 1025-1030, 1996 1) Aaltonen LA, Peltomaki P, Leach FS et al: Clues to the pathogenesis of familial colorectal cancer, Science 260: 812-816, 1993 11) D'Emilia JC, Rodriguez-Bigas MA, Petrelli NJ: The clinical and genetic manifestations of hereditary nonpolyposis colorectal carcinoma, Am J Surg 169: 368-372, 1995 7) Vasen HFA, Mecklin J-P, Meera-Khan P et al: The international collaborative group on hereditary non-polyposis colorectal cancer, Dis Colon Rectum 34: 424-425, 1991 16) Kouri M, Laasonen A, Mecklin J-P: Diploid predominance in hereditary nonpolyposis colorectal carcinoma evaluated by flow cytometry, Cancer 65: 1825-1829, 1990 10) Mecklin J-P, Pontz de Leon M: Epidemiology of HNPCC, Anticancer Res 14 : 1625-1629, 1994 23) Albano WA, Recabaren JA, Lynch HT et al: Natural history of hereditary cancer of the breast and colon, Cancer 50: 360-363, 1982 22) Tomoda H, Baba H, Taketomi A et al: Second primary extracolonic cancers in Japanese hereditary nonpolyposis colorectal cancer, Oncol Rept 5: 143-145, 1998 15) Mecklin-JP, Sipponen P, Jarvienen HJ: Histopathology of colorectal carcinomas and adenomas in cancer family syndrome, Dis Colon Rectum 29: 849-853, 1986 21) Rodringuez-Bigas, MA: Prophylactic colectomy for gene carriers in hereditary nonpolyposis colorectal cancer, Cancer 78: 199-201, 1996 20) Lynch HT, Smyrk TC, Watson P et al: Genetics, natural history, tumor spectrum, and hereditary pathology of nonpolyposis colorectal cancer: an update review, Gastroenterology 104: 1535-1549, 1993 17) Frei JV: Hereditary nonpolyposis colorectal cancer (lynch syndrome II) diploid malignancies with prolonged survival, Cancer 69: 1108-1111, 1992 3) Fishel R, Lescoe MK, Rao MRS et al: The human mutator gene homolog MSH 2 and its association with hereditary nonpolyposis colon canser, Cell 75: 1027-1037, 1993 26) 友田博次, 馬場秀夫, 森田勝ほか: 遺伝性非ポリポーシス大腸癌の予後, 外科 59: 728-733, 1997 24) Sankila R, Aaltonen LA, Jarvinen HJ et al: Better survival rates in patients with MLHI-associated hereditary colorectal cancer, Gastroenterology 110: 682-687, 1996 9) Baba S: Report on multi-institutional registry of hereditary non-polyposis colorectal cancer (HNPCC) in Japan 1995. The 43 rd general meeting of Japanese Society for cancer of the colon and rectum Hamamatsu, 1995 8) 国友一史, 古味信彦, 古川麗月ほか: 遺伝性大腸癌 (HNPCC), 臨床科学 28: 1277-1281, 1992 2) Thibodeau SN, Bren G, Schaid D: Microsatellite instability in cancer of the proximal colon, Science 260: 816-819, 1993 |
| References_xml | – reference: 8) 国友一史, 古味信彦, 古川麗月ほか: 遺伝性大腸癌 (HNPCC), 臨床科学 28: 1277-1281, 1992 – reference: 21) Rodringuez-Bigas, MA: Prophylactic colectomy for gene carriers in hereditary nonpolyposis colorectal cancer, Cancer 78: 199-201, 1996 – reference: 9) Baba S: Report on multi-institutional registry of hereditary non-polyposis colorectal cancer (HNPCC) in Japan 1995. The 43 rd general meeting of Japanese Society for cancer of the colon and rectum Hamamatsu, 1995 – reference: 18) Kim H, Jen V, Vogelstein B et al: Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequencies (abstr), Am J Pathol 145: 148-156, 1994 – reference: 12) Fitzgibbons RJ, Lynch HT : Recognition and treatment of patients with hereditary non-polyposis colon cancer, Ann Surg 206: 289-295, 1987 – reference: 6) Leach FS, Nicolaides NC, Papadopoulos N et al: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer, Cell 75: 1215-1225, 1993 – reference: 22) Tomoda H, Baba H, Taketomi A et al: Second primary extracolonic cancers in Japanese hereditary nonpolyposis colorectal cancer, Oncol Rept 5: 143-145, 1998 – reference: 5) Nicolaides NC, Papadopoulos N, Liu B et al: Mutations of two PMS homologues in hereditary nonpolyposis colon cancer, Nature 371: 75-80, 1994 – reference: 7) Vasen HFA, Mecklin J-P, Meera-Khan P et al: The international collaborative group on hereditary non-polyposis colorectal cancer, Dis Colon Rectum 34: 424-425, 1991 – reference: 17) Frei JV: Hereditary nonpolyposis colorectal cancer (lynch syndrome II) diploid malignancies with prolonged survival, Cancer 69: 1108-1111, 1992 – reference: 14) Watson P, Lynch HT: Extracolonic cancer in hereditary nonpolyposis colorectal cancer, Cancer 71: 677-685, 1993 – reference: 20) Lynch HT, Smyrk TC, Watson P et al: Genetics, natural history, tumor spectrum, and hereditary pathology of nonpolyposis colorectal cancer: an update review, Gastroenterology 104: 1535-1549, 1993 – reference: 15) Mecklin-JP, Sipponen P, Jarvienen HJ: Histopathology of colorectal carcinomas and adenomas in cancer family syndrome, Dis Colon Rectum 29: 849-853, 1986 – reference: 27) Ionov YM, Peinado A, Malkhosyan S et al: Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis, Nature 363: 558-561, 1993 – reference: 16) Kouri M, Laasonen A, Mecklin J-P: Diploid predominance in hereditary nonpolyposis colorectal carcinoma evaluated by flow cytometry, Cancer 65: 1825-1829, 1990 – reference: 1) Aaltonen LA, Peltomaki P, Leach FS et al: Clues to the pathogenesis of familial colorectal cancer, Science 260: 812-816, 1993 – reference: 28) 森正樹, 中島秀彰, 三森功士ほか: DNAミスマッチ修復遺伝子異常とreplication error消化器癌におけるgenetic instabilityの臨床的意義食道癌・胃癌・大腸癌, 日臨 54: 1025-1030, 1996 – reference: 25) Tomoda H, Baba H, Oshiro T et al: Clinical manifestations in patients with hereditary nonpolyposis colorectal cancer, J Surg Oncol 61 262-266, 1996 – reference: 10) Mecklin J-P, Pontz de Leon M: Epidemiology of HNPCC, Anticancer Res 14 : 1625-1629, 1994 – reference: 26) 友田博次, 馬場秀夫, 森田勝ほか: 遺伝性非ポリポーシス大腸癌の予後, 外科 59: 728-733, 1997 – reference: 4) Bronner CE, Baker SM, Morrison PT et al: Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer, Nature 368: 258-261, 1994 – reference: 3) Fishel R, Lescoe MK, Rao MRS et al: The human mutator gene homolog MSH 2 and its association with hereditary nonpolyposis colon canser, Cell 75: 1027-1037, 1993 – reference: 13) Lynch HT, Lanspa SJ, Boman BM et al: Hereditary non-polyposis colorectal cancer-Lynch syndromes I and II, Gastroenterol Clin North Am 17: 679-712, 1988 – reference: 11) D'Emilia JC, Rodriguez-Bigas MA, Petrelli NJ: The clinical and genetic manifestations of hereditary nonpolyposis colorectal carcinoma, Am J Surg 169: 368-372, 1995 – reference: 19) Liu B, Parsons RE, Hamilton SR et al: hMSH 2 mutations in hereditary nonpolyposis colorectal cancer kindreds, Cancer Res 54: 4590-4594, 1994 – reference: 2) Thibodeau SN, Bren G, Schaid D: Microsatellite instability in cancer of the proximal colon, Science 260: 816-819, 1993 – reference: 23) Albano WA, Recabaren JA, Lynch HT et al: Natural history of hereditary cancer of the breast and colon, Cancer 50: 360-363, 1982 – reference: 24) Sankila R, Aaltonen LA, Jarvinen HJ et al: Better survival rates in patients with MLHI-associated hereditary colorectal cancer, Gastroenterology 110: 682-687, 1996 |
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| Snippet | 遺伝性非ポリポーシス大腸癌(Hereditary Nonpolyposis Colorectal Cancer: HNPCC)は常染色体優生遺伝性疾患で, 若年で発症し, 右側結腸に好発し, 多発癌や重複癌が多く, ... 遺伝性非ポリポーシス大腸癌(Hereditary Nonpolyposis Colorectal Cancer:HNPCC)は常染色体優生遺伝性疾患で, 若年で発症し, 右側結腸に好発し, 多発癌や重複癌が多く, 予... |
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| Title | 遺伝性非ポリポーシス大腸癌の診断, 治療および予後 |
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