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The Role of the Surgical Pathologist in the Diagnosis of Gastrointestinal Polyposis Syndromes
- Source :
- Advances in Anatomic Pathology. 25:1-13
- Publication Year :
- 2018
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2018.
-
Abstract
- Polyps of the gastrointestinal tract are very common lesions and most frequently sporadic in nature. Some polyp subtypes are associated with rare hereditary polyposis syndromes, including juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome. However, many sporadic benign lesions of the gastrointestinal tract can mimic some of these syndromic hamartomatous polyps. The role of the surgical pathologist is to raise the possibility of a hereditary condition in case of suggestive polyp histology and to look for clinical information to support the suspected diagnosis. In this review, the clinical presentation and the pathology associated with these rare hamartomatous polyposis syndromes are discussed in an attempt to provide pathologists clues in suggesting one such syndrome on the basis of histologic findings and clinical context. Identification of affected individuals is important because of the increased gastrointestinal and other malignancies. Recently, new adenomatous polyposis syndromes have been discovered, expanding the genetic causes of patient diagnosed with multiple colonic adenomas. By being aware of the clinical phenotype and the tumor spectrum associated with gastrointestinal polyposis syndromes, surgical pathologists can play a critical role in recommending genetic counseling when suspicious of such a diagnosis. This may lead to the identification of a genetic cause and appropriate surveillance of affected family members to screen for associated malignancies.
- Subjects :
- medicine.medical_specialty
Pathology, Surgical
Genetic counseling
Peutz-Jeghers Syndrome
Context (language use)
Pathology and Forensic Medicine
Surgical pathology
03 medical and health sciences
0302 clinical medicine
Hamartomatous Polyp
Neoplastic Syndromes, Hereditary
medicine
Humans
Juvenile polyposis syndrome
Gastrointestinal tract
Intestinal Polyposis
business.industry
Cowden syndrome
medicine.disease
Dermatology
digestive system diseases
Gastrointestinal Tract
Adenomatous Polyposis Coli
Hamartomatous polyposis
030220 oncology & carcinogenesis
030211 gastroenterology & hepatology
Anatomy
Colorectal Neoplasms
business
Subjects
Details
- ISSN :
- 10724109
- Volume :
- 25
- Database :
- OpenAIRE
- Journal :
- Advances in Anatomic Pathology
- Accession number :
- edsair.doi.dedup.....2700f5f48b2fd00f11532b25d7715636