scholarly journals Melena Revealing an Attenuated Familial Adenomatous Polyposis in an Elderly Patient: A Case Report

2022 ◽  
Vol 7 (01) ◽  
pp. 55-57
Author(s):  
Asmaa N'khaili ◽  
Hala Aouroud ◽  
Riad Semlali ◽  
Fatimaezzahra Chakor ◽  
Adil Ait Errami ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Colonic Mucosa ◽  
Ileorectal Anastomosis ◽  
Individual Treatment ◽  
Early Age ◽  
Phenotypic Variance ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Truncating Mutation ◽  
History Of

We describe a patient who was diagnosed with multiple tubulleuvillous adenomas with focus of high-grade tubular dysplasia all over the colonic mucosa, discovered during a colonoscopy performed during an episode of melena. Genetic testing has identified a germline truncating mutation at the codon (5q22.2) of the adenomatous polyposis (APC) gene. This mutation is localized in the alternately spliced region of exon 12, a region which is associated with an attenuated familial adenomatous polyposis (PAFA) phenotype. Our patient had no extracolic manifestations of PAFA and none of her relatives had a history of rectocolic polyposis. Treatment consisted of colectomy with ileorectal anastomosis. PAFA is an ill-defined condition of unknown prevalence and penetrance, requiring individual treatment and lifelong monitoring. It is essential to identify these patients with a view to setting up appropriate endoscopic surveillance at an early age in family members carrying this mutation, due to the marked intra-family phenotypic variance.

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

ID: 3524040 THE NATURAL HISTORY OF AMPULLARY ADENOMAS IN FAMILIAL ADENOMATOUS POLYPOSIS SYNDROME: LONG-TERM FOLLOW-UP

2021 ◽  
Vol 93 (6) ◽  
pp. AB350
Author(s):  
Achintya D. Singh ◽  
Amit Bhatt ◽  
Abel Joseph ◽  
Neal Mehta ◽  
Gautam N. Mankaney ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Natural History ◽  
Adenomatous Polyposis ◽  
Polyposis Syndrome ◽  
Long Term Follow Up ◽  
History Of

Natural history of ampullary adenoma in familial adenomatous polyposis: reconfirmation of benign nature during extended surveillance

2000 ◽  
Vol 95 (6) ◽  
pp. 1557-1562 ◽  
Author(s):  
Takayuki Matsumoto ◽  
Mitsuo Iida ◽  
Shotaro Nakamura ◽  
Kazuoki Hizawa ◽  
Takashi Yao ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Natural History ◽  
Adenomatous Polyposis ◽  
Ampullary Adenoma ◽  
History Of ◽  
Benign Nature

scholarly journals American Founder Mutation for Attenuated Familial Adenomatous Polyposis

2008 ◽  
Vol 6 (1) ◽  
pp. 46-52 ◽  
Author(s):  
Deborah W. Neklason ◽  
Jeffery Stevens ◽  
Kenneth M. Boucher ◽  
Richard A. Kerber ◽  
Nori Matsunami ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Founder Mutation ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
American Founder

What's New in Hereditary Colorectal Cancer?

2005 ◽  
Vol 129 (11) ◽  
pp. 1380-1384 ◽  
Author(s):  
Jeremy R. Jass
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Practical Significance ◽  
Adenomatous Polyposis ◽  
Repair Gene ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Dna Repair Gene ◽  
Hereditary Nonpolyposis ◽  
Revised Bethesda Guidelines

Abstract Precancerous polyposes other than classic familial adenomatous polyposis and the condition hereditary nonpolyposis colorectal cancer, or Lynch syndrome, continue to present major diagnostic challenges for the anatomic pathologist. This editorial highlights the practical significance of novel insights and clinical guidelines in the recent literature, as well as in 4 contributions to this edition of the Archives of Pathology & Laboratory Medicine. The first section will address attenuated familial adenomatous polyposis and a newly recognized type of autosomal-recessive adenomatous polyposis associated with the DNA repair gene MYH. The remainder of the editorial discusses the role of the revised Bethesda guidelines in the diagnosis of hereditary nonpolyposis colorectal cancer and concludes with the recently identified serrated pathway syndrome.

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