K-ras Mutation and Loss of Heterozygosity at 17p with β-Catenin Accumulation in Intramucosal Carcinoma of the Ileostomy in Familial Adenomatous Polyposis: A Case Report

Digestive Diseases and Sciences

Volumn 48, Issue 12, 2003, Pages 2310-2314

  Hata, Keisuke ^a,b   Watanabe, Toshiaki ^a   Kawamura, Yutaka J ^a   Ishigami, Hironori ^a   Kanazawa, Takamitsu ^a   Tada, Tomohiro ^a   Zhao, Bin ^a   Koketsu, Shinichiro ^a   Nagawa, Hirokazu ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO HOSPITAL   (Japan)

Author keywords

catenin; Adenomatous polyposis coli; Ileostomy carcinoma; K ras; Loss of heterozygosity; p53

Indexed keywords

BETA CATENIN;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 17P; CLINICAL FEATURE; COLON RESECTION; DNA DETERMINATION; DNA EXTRACTION; FAMILIAL COLON POLYPOSIS; FAMILY HISTORY; FEMALE; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; ILEOSTOMY; ILEOSTOMY CARCINOMA; IMMUNOHISTOCHEMISTRY; ONCOGENE K RAS; PRIORITY JOURNAL; SURGICAL TECHNIQUE;

ADENOMATOUS POLYPOSIS COLI; BETA CATENIN; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 5; CYTOSKELETAL PROTEINS; DNA, NEOPLASM; FEMALE; GENES, P53; GENES, RAS; HUMANS; ILEOSTOMY; IMMUNOHISTOCHEMISTRY; LOSS OF HETEROZYGOSITY; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; TRANS-ACTIVATORS;

EID: 0347064071     PISSN: 01632116     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:DDAS.0000007868.52339.22     Document Type: Article

References (23)

1. Burt RW, Berenson MM, Lee RG, Tolman KG, Freston JW, Gardner EJ: Upper gastrointestinal polyps in Gardner's syndrome. Gastroenterology 86:295-301, 1984
2. Roth JA, Logio T: Carcinoma arising in an ileostomy stoma: An unusual complication of adenomatous polyposis coli. Cancer 49:2180-2184, 1982
3. Ross DS, Bussing R, Dietrich J: Carcinoma arising in an ileostomy. IMJ III Med J 172:163-166, 1987
4. Primrose JN, Quirke P, Johnston D: Carcinoma of the ileostomy in a patient with familial adenomatous polyposis. Br J Surg 75:384, 1988
5. Suarez V, Alexander-Williams J, O'Connor HJ: Campos A, Fuggle WJ, Thompson H, Enker WE, Greenstein AJ: Carcinoma developing in ileostomies after 25 or more years. Gastroenterology 95:205-208, 1988
6. Gilson TP, Sollenberger LL: Adenocarcinoma of an ileostomy in a patient with familial adenomatous polyposis. Report of a case. Dis Colon Rectum 35:261-265, 1992
7. Johnson JA 3rd, Talton DS, Poole GV: Adenocarcinoma of a Brooke ileostomy for adenomatous polyposis coli. Am J Gastroenterol 88:1122-1124, 1993
8. Mimura T, Kuramoto S, Yamasaki K, Kaminishi M: Familial adenomatous polyposis: a case report and histologic mucin study. J Clin Gastroenterol 28:372-376, 1999
9. Herring JA, Hall CC, Johnson JA, Poole GV, Subramony C, Suvarna-Gurram V, Hall TJ: K-ras mutation in a tubular adenoma originating at an ileostomy in a familial adenomatous polyposis patient. Am J Gastroenterol 91:587-591, 1996
10. Yamagata S, Muto T, Uchida Y, Masaki T, Higuchi Y, Sawada T, Hirooka T: Polypoid growth and K-ras codon 12 mutation in colorectal cancer. Cancer 75:953-957, 1995
11. Kanazawa T, Watanabe T, Kazama S, Tada T, Koketsu S, Nagawa H: Poorly differentiated adenocarcinoma and mucinous carcinoma of the colon and rectum show higher rates of loss of heterozygosity and loss of E-cadherin expression due to methylation of promoter region. Int J Cancer 102:225-229, 2002
12. Hamilton SR, Bussey HJ, Mendelsohn G, Diamond MP, Pavlides G, Hutcheon D, Harbison M, Shermeta D, Morson BC, Yardley JH: Ileal adenomas after colectomy in nine patients with adenomatous polyposis coli/Gardner's syndrome. Gastroenterology 77:1252-1257, 1979
13. Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P, Pierotti M, Spinelli P, Radice P: Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 21:1698-1707, 2003
14. Wu JS, Paul P, McGannon EA, Church JM: APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann Surg 227:57-62, 1998
15. Crabtree MD, Tomlinson IP, Hodgson SV, Neale K, Phillips RK, Houlston RS: Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut 51:420-423, 2002
16. Bjork J, Akerbrant H, Iselius L, Bergman A, Engwall Y, Wahlstrom J, Martinsson T, Nordling M, Hultcrantz R: Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology 121:1127-1135, 2001
17. Friedl W, Meuschel S, Caspari R, Lamberti C, Krieger S, Sengteller M, Propping P: Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet 97:579-584, 1996
18. Cetta F, Olschwang S, Petracci M, Montalto G, Baldi C, Zuckermann M, Costantini RM, Fusco A: Genetic alterations in thyroid carcinoma associated with familial adenomatous polyposis: clinical implications and suggestions for early detection. World J Surg 22:1231-1236, 1998
19. Giardiello FM, Petersen GM, Piantadosi S, Gruber SB, Traboulsi EI, Offerhaus GJ, Muro K, Krush AJ, Booker SV, Luce MC, Laken SJ, Kinzler KW, Vogelstein B, Hamilton SR: APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 40:521-525, 1997
20. Powell SM, Zilz N, Beazer-Barclay Y, Bryan TM, Hamilton SR, Thibodeau SN, Vogelstein B, Kinzler KW: APC mutations occur early during colorectal tumorigenesis. Nature 359:235-237, 1992
21. Crabtree M, Sieber OM, Lipton L, Hodgson SV, Lamlum H, Thomas HJ, Neale K, Phillips RK, Heinimann K, Tomlinson IP: Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients. Oncogene 22:4257-4265, 2003
22. Baker SJ, Preisinger AC, Jessup JM, Paraskeva C, Markowitz S, Willson JK, Hamilton S, Vogelstein B: p53 gene mutations occur in combination with 17p allelic deletions as late events in colorectal tumorigenesis. Cancer Res 50:7717-7722, 1990
23. Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, Leppert M, Nakamura Y, White R, Smits AM, Bos JL: Genetic alterations during colorectal-tumor development. N Engl J Med 319:525-532, 1988