Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma
- 1Department of Medicine, the Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. jtrimba1@jhmi.edu
- 0Department of Medicine, the Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. jtrimba1@jhmi.edu
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View abstract on PubMed
Summary
This summary is machine-generated.Attenuated familial adenomatous polyposis (AFAP) may increase the risk of periampullary cancer. This case report highlights the importance of considering AFAP in patients with ampullary or duodenal tumors.
Area Of Science
- Gastroenterology
- Oncology
- Genetics
Background
- Familial adenomatous polyposis (FAP) is associated with an increased risk of periampullary cancer.
- The risk of periampullary cancer in attenuated FAP (AFAP) remains largely uncharacterized.
Observation
- A 38-year-old woman with no prior family history presented with ampullary adenocarcinoma.
- Diagnosis of AFAP was established through extended family history review and genetic testing.
Findings
- This case suggests a potential link between AFAP and periampullary tumors.
- The incidence of extracolonic manifestations like periampullary cancer in AFAP is not well-defined.
Implications
- AFAP should be considered in the differential diagnosis for ampullary and duodenal tumors.
- Further research is needed to determine the prevalence and risk associated with AFAP in periampullary cancer.
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