scholarly journals Familial adenomatous polyposis with early onset dysplasia in a Bangladeshi girl: a case report

2020 ◽  
Vol 43 (3) ◽  
pp. 179-182
Author(s):  
Khan Lamia Nahid ◽  
Md Rukunuzzaman ◽  
Mukesh Khadga ◽  
Fahmida Begum ◽  
ASM Bazlul Karim
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Ileal Pouch ◽  
Autosomal Dominant ◽  
Ileorectal Anastomosis ◽  
Apc Gene ◽  
Surgical Removal ◽  
Early Age ◽  
Adenomatous Polyposis ◽  
Increased Risk ◽  
Dominant Condition

Familial adenomatous polyposis (FAP) is characterized by hundreds to thousands of adenomatous polyps in the colon which usually starts at adolescence. Familial adenomatous polyposis (FAP) is a rare, autosomal dominant condition caused by a defect in the adenomatous polyposis coli (APC) gene. FAP arises from germline mutations of the APC gene on chromosome 5q21. If left untreated, all patients will develop colon cancer by age 35-40 years. Their lifetime risk of developing colorectal cancer is estimated to exceed 99% in patients who do not undergo a colectomy. Eventually, there is increased risk of development of other malignancies. Early surgical removal of colon can greatly reduce the spread of cancer. We reported a case of FAP whose symptoms started at early age. Early dysplastic changes were found on histological report. She had undergone prophylactic colectomy. Though appropriate timing for colectomy is late teens, she had surgery much earlier time. Ileal pouch anal anastomosis was done instead of Ileorectal anastomosis. Large sized polyps were the indication of preponed colectomy. But lifelong surveillance is necessary for the girl to detect other malignancies after colectomy Bangladesh J Child Health 2019; VOL 43 (3) :179-182

Multiple Approach to the Exploration of Genotype-Phenotype Correlations in Familial Adenomatous Polyposis

2003 ◽  
Vol 21 (9) ◽  
pp. 1698-1707 ◽  
Author(s):  
L. Bertario ◽  
A. Russo ◽  
P. Sala ◽  
L. Varesco ◽  
M. Giarola ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Multiple Correspondence Analysis ◽  
Retinal Pigment ◽  
Clinical Manifestations ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Mutation Site ◽  
Cancer Predisposition Syndrome ◽  
Increased Risk

Purpose: Familial adenomatous polyposis (FAP), caused by a mutation in the APC gene, is a colorectal cancer predisposition syndrome associated with several other clinical conditions. The severity of the FAP is related to the position of the inherited mutation in the APC gene. We analyzed a large series of FAP patients to identify associations among major clinical manifestations and to correlate the mutation site with specific disease manifestations. Materials and Methods: APC mutations were identified in 953 FAP patients from 187 families. We used unconditional logistic regression models and a method involving generalized estimating equations to investigate the association between genotype and phenotype. We used multiple correspondence analysis to represent the interrelationships of a multiway contingency table of the considered variables. Results: APC germline mutations were located between codons 156 and 2011 of the APC gene. Mutations spanning the region between codons 543 and 1309 were variable, but strongly associated with congenital hypertrophy of retinal pigment epithelium. Mutations between codons 1310 and 2011 were associated with a six-fold risk of desmoid tumors relative to the low-risk reference region (159 to 495). Mutations at codon 1309 were associated with early development of colorectal cancer. Mutations between codons 976 and 1067 were associated with a three- to four-fold increased risk of duodenal adenomas. The cumulative frequency of extracolonic manifestations was highest for mutations between codons 976 and 1067, followed by mutations between 1310 and 2011. Conclusion: Analysis of the relation between APC mutation site and phenotype identifies subgroups of FAP patients at high risk for major extracolonic disease, which is useful for surveillance and prevention.

scholarly journals Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature

2019 ◽  
Vol 37 (5) ◽  
pp. 400-405 ◽  
Author(s):  
Aleksandra Sokic-Milutinovic
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Apc Gene ◽  
Colorectal Carcinogenesis ◽  
Endoscopic Polypectomy ◽  
Fundic Gland ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Increased Risk ◽  
Asymptomatic Individuals ◽  
Immediate Surgery

Hereditary polyposis syndromes in which APC gene germline mutations can lead to colorectal carcinogenesis are familial adenomatous polyposis (FAP), attenuated FAP (AFAP) and MUTYH-associated polyposis. All 3 syndromes increase the potential for the development of colorectal cancer. AFAP is diagnosed if less than 100 adenomas are detected in the colon at presentation. AFAP is inherited in an autosomal dominant manner. We present a case of a 22-year-old female with AFAP who was treated with endoscopic polypectomy and surveilled by annual colonoscopy. Guidelines for AFAP surveillance suggest annual colonoscopy with endoscopic polypectomy in asymptomatic individuals. Indications for immediate surgery include documented or suspected cancer or significant symptoms. Preferred surgical option in AFAP is colectomy and ileo-rectal anastomosis. Surveillance of the AFAP patients should include upper GI endoscopy and duodenoscopy with random biopsies of fundic gland polyps and endoscopic resection of detected adenomas. Annual thyroid ultrasound is indicated due to increased risk for thyroid cancer. In pediatric patients tested positive for germline mutation of APC gene screening for hepatoblastoma using alpha-fetoprotein and liver ultrasound should be performed.

Ileal Pouch Anal Anastomosis Is More “Desmoidogenic” Than Ileorectal Anastomosis in Familial Adenomatous Polyposis

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Joshua Sommovilla ◽  
David Liska ◽  
Xue Jia ◽  
Matthew F. Kalady ◽  
Bradford Sklow ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Ileal Pouch ◽  
Ileorectal Anastomosis ◽  
Ileal Pouch Anal Anastomosis ◽  
Adenomatous Polyposis ◽  
Anal Anastomosis

Quality of Life After Ileal Pouch-Anal Anastomosis and Ileorectal Anastomosis in Patients With Familial Adenomatous Polyposis

2005 ◽  
Vol 48 (11) ◽  
pp. 2032-2037 ◽  
Author(s):  
Imran Hassan ◽  
Heidi K. Chua ◽  
Bruce G. Wolff ◽  
Stephanie F. Donnelly ◽  
Roger R. Dozois ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Familial Adenomatous Polyposis ◽  
Ileal Pouch ◽  
Ileorectal Anastomosis ◽  
Ileal Pouch Anal Anastomosis ◽  
Adenomatous Polyposis ◽  
Anal Anastomosis
Sign in / Sign up

Export Citation Format

Share Document