Background
Gastrointestinal polyposis syndromes are rare familial syndromes all sharing an autosomal dominant inheritance.
SYNDROME CHARACTERIZATION Familial Adenomatous Polyposis (FAP) Genetic defect on the APC gene (5q21)
500-2500 colonic adenomas with a minimum of 100 needed for diagnosisGardner Syndrome
(Familial Polyposis Coli)Variant of FAP
Colonic adenomas, osteomas of the bone, epidermal cysts, thyroid cancer, and fibromatosisTurcot Syndrome Adenomatous colon polyps and tumors of the central nervous system (usually gliomas)
Polyps arise from 10-20 yrs, cancer follows after 10-15 yrsOUTLINE
HISTOPATHOLOGICAL VARIANTS CHARACTERIZATION Cell proliferation and ultrastructural changes of the duodenal mucosa of patients affected by familial adenomatous polyposis.
Biasco G, Cenacchi G, Nobili E, Pantaleo Ma M, Calabrese C, Di Febo G, Morselli Labate A, Miglioli M, Brandi G.
Hum Pathol. 2004 May;35(5):622-6. Abstract quote
Patients affected by familial adenomatous polyposis (FAP) are at risk of developing duodenal neoplasia.
Our objective was to detect early abnormalities of the epithelial cell proliferation and ultrastructure of apparently normal duodenal mucosa of FAP patients. Biopsy specimens were taken from the duodenal mucosa. Cell proliferation was studied by immunohistochemistry with proliferating cell nuclear antigen (PCNA), and ultrastructure, by transmission electron microscopy.
We found that the PCNA labeling index for duodenal mucosa of patients with FAP was higher in comparison to the case of hospital controls without cancer risk (P = 0.019). Moreover, ultrastructural changes related to an impairment of cell adhesion function were found in all biopies of FAP patients but not in the duodenal mucosa of the controls.
We conclude that alterations of cell proliferation kinetics and epithelial adherens junction structures were phenotypic characteristics of histologically normal duodenal mucosa of FAP patients. These abnormalities may be considered as intermediate biomarkers of neoplasia and potential surrogate endpoints in chemoprevention studies.Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis.
Jass JR, Cottier DS, Pokos V, Parry S, Winship IM.
Department of Pathology, University of Queensland Medical School, Australia.
Pathology 1997 Feb;29(1):28-33 Abstract quote
A member of a hereditary non-polyposis colorectal cancer (HNPCC) family developed two colorectal cancers and multiple polyps within four years of a negative colonoscopic examination.
One of the cancers was only 4 mm in diameter and showed the gross and endoscopic appearances of a de novo carcinoma. Microscopic examination of multiple levels revealed a mixed hyperplastic polyp/adenoma (mixed polyp) in contiguity with the cancer. The colon harboured additional polyps of which five were tubular adenomas, seven were hyperplastic polyps and seven were mixed polyps (architecturally compatible with hyperplastic polyps but with atypical cytology). Atypical features of the mixed polyps included tripolar mitoses, bizarre chromatin aggregations and multinucleation. One mixed polyp showed DNA microsatellite instability. Under the influence of the mutator defect, hyperplastic polyps may develop atypical or adenomatous features and show progression to carcinoma.
Such an alternative morphogenetic pathway could explain the differing molecular and pathological profiles of cancers showing DNA microsatellite instability.
PEUTZ-JEGHERS POLYP
Do Sporadic Peutz-Jeghers Polyps Exist? Experience of a Large Teaching Hospital.*Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD †Dianon Systems, Tampa, FL.
Am J Surg Pathol. 2007 Aug;31(8):1209-1214. Abstract quote
Most types of sporadic gastrointestinal (GI) polyps vastly outnumber their syndromic counterparts. In contrast, the incidence of sporadic Peutz-Jeghers polyps (PJP) is unknown.
We examined all potential PJP seen at our hospital over a 22-year (y) period to assess the incidence of sporadic PJP. The pathology database of a large hospital was searched for "Peutz-Jeghers polyp(s)," yielding 121 polyps from 38 patients. The polyps were reviewed by 3 pathologists to confirm the diagnosis.
Clinical information to confirm or refute a diagnosis of Peutz-Jeghers syndrome (PJS) was collected. Of the 102 polyps included after histologic review, 94 polyps arose in patients meeting the World Health Organization criteria for PJS. These PJS polyps were eliminated from further analysis. Clinical information was obtained for the remaining 8 patients with potential "sporadic" PJP (1 to 50 y; mean=14 y; median=4 y). Of the 8 potential sporadic PJP, only 3 polyps from 3 patients had unequivocal PJP histologic features, all from the small intestine.
All 3 patients had clinical histories suggesting syndromic PJP although they did not meet World Health Organization criteria, that is, 2 developed pancreatic cancer, 1 had bilateral "ovarian cystic masses" and a glomus tympanicum tumor, and 1 had strong family history of GI malignancies. The 5 remaining patients each had a colonic polyp with features suggestive, but not definitely diagnostic of, PJP. In these cases, prolapse lesions could not be excluded. One patient had a history of high-grade dysplasia in a tubulovillous adenoma in the colon at 53 years, but no family cancer history. Another had a family GI cancer history. Another had a history of pituitary adenoma at age 39, and the last had ductal breast carcinoma diagnosed 4 years before the discovery of the polyp.
Our findings suggest that if sporadic PJP exist, they are extremely rare. Moreover, our data suggest that individuals with a single PJP may have a cumulative lifetime risk of cancer similar to those with the syndrome.
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Last Updated August 7, 2007
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