Cover Image

A RARE CASE OF FAMILIAL ADENOMATOUS POLIPOSIS- CASE REPORT

PRASAD S

Abstract


Familial adenomatous polyposis (FAP) is rare one.1 of colorectal cancer associated with FAP. It is a  precancerous condition and is having 100 malignant potential. FAP present in younger age group, so proper screening and prophylactic total colectomy needed. FAP is an autosomal dominant disease that results from mutation in the  adenomatous polyposis coli (APC) gene located on chromosome5q21-22. One third of all cases of FAP have no family history of FAP, and these cases are thought to be caused by a new germ-line mutation. The diagnosis of FAP is based on the detection of more than 100 adenomatous  colonicl polyps. We had a case of FAP in a 37-year-old man with history of abdominal pain and bleeding PR for 6 months.

 


Full Text:

PDF

References


Gardner EJ, Burt RW, Freston JW: Gastrointestinal polyposis: syndromes and genetic mechanisms. West J Med 1980;132:488–499.

Smith RG: Southwestern internal medicine conference: hereditary predisposition to colorectal cancer: new insights. Am J Med Sci 1994;308:295–308.

Powell SM, Petersen GM, Krush AJ, et al: Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993;329:1982–1987.

Burt RW: Inherited colorectal cancer syndrome: clinical update. American Society for Gastrointestinal Endoscopy

Clinical Update 1998;5:1–4.

Smith KJ, Johnson KA, Bryan TM, et al: The APC gene product in normal and tumor cells. Proc Natl Acad Sci U S A 1993;90:2846–2850.

Neuman WL, Wasylyshyn ML, Jacoby R, et al: Evidence for a common molecular pathogenesis in colorectal, gastric, and pancreatic cancer. Genes Chromosomes Cancer 1991;3:468–473.

Reale MA, Fearon ER: Molecular genetics of hereditary colorectal cancer. Hematology/Oncology Annals 1994;2: 129–140.

Laken SJ, Petersen GM, Gruber SB, et al: Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997;17:79–83.

Watson P, Lynch HT: Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71: 677–685.

Winawer SJ, Zauber AG, Gerdes H, et al: Risk of colorectal cancer in the families of patients with adenomatous polyps. National Polyp Study Workgroup. N Engl J Med 1996;334:82–87.

Slattery ML, Kerber RA: Family history of cancer and colon cancer risk: the Utah Population Database. J Natl Cancer Inst 1994;86:1618–1626.

Hamilton SR, Liu B, Parsons RE: The molecular basis of Turcot’s syndrome. N Engl J Med 1995;332:839–847.

Spirio L, Olschwang S, Groden J, et al: Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951–957.

Lynch HT, Smyrk TC, Lanspa SJ, et al: Upper gastrointestinal manifestations in families with hereditary flat adenoma syndrome. Cancer 1993;71:2709–2714.

Jenne DE, Reimann H, Nezu J, et al: Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998;18:38–43.

Rebsdorf Pedersen I, Hartvigsen A, Fischer Hansen B, et al: Management of Peutz-Jeghers syndrome. Experience with patients from the Danish Polyposis Register. Int J Colorectal Dis 1994;9:177–179.

Sassatelli R, Bertoni G, Serra L, et al: Generalized juvenile polyposis with mixed pattern and gastric cancer. Gastroenterology 1993;104:910–915.

Howe JR, Roth S, Ringold JC, et al: Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;

:1086–1088.

DiLiberti JH, Weleber RG, Budden S: Ruvalcaba- Myhre-Smith syndrome: a case with probable

Autosomaldominant inheritance and additional manifestations. Am J Med Genet 1983;15:491–495.

Koreth J, O’Leary JJ, O’D McGee J: Microsatellites and PCR genomic analysis. J Pathol 1996;178:239–248.

Peltomaki P, Lothe RA, Aaltonen LA, et al: Microsatellite instability is associated with tumors that

Characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res 1993;53:5853–5855.

Yagi OK, Akiyama Y68, Nomizu T, et al: Proapoptotic gene BAX is frequently mutated in hereditary nonpolyposis colorectal cancers but not in adenomas. Gastroenterology 1998;114:268–274.

Jass JR, Smyrk TC, Stewart SM, et al: Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res 1994;14: 1631–1634.

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 1992;52: 4055–4057.

Rhodes M, Bradburn DM: Overview of screening and management of familial adenomatous polyposis. Gut 1992; 33:125–131.


Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An Initiative of The Tamil Nadu Dr MGR Medical University