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2014 ; 38
(12
): 1618-26
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Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and
malignancy are associated with foveolar, intestinal, and pyloric differentiation
#MMPMID25390638
Ma C
; Giardiello FM
; Montgomery EA
Am J Surg Pathol
2014[Dec]; 38
(12
): 1618-26
PMID25390638
show ga
Patients with juvenile polyposis syndrome (JPS), a hereditary autosomal dominant
hamartomatous polyposis syndrome, are at increased risk for colorectal
adenocarcinoma. The upper gastrointestinal tract is less often involved by JPS
than the colorectum, and, consequently, upper tract juvenile polyps (JPs) are not
well studied. We reviewed upper endoscopies and corresponding biopsies in JPS
patients documented in our Polyposis Registry. A total of 199 upper
gastrointestinal biopsies from 69 endoscopies were available in 22 of 41 (54%)
JPS patients. Thirteen of the 22 patients (59%) had ?1 gastric JP; 5 also had 6
small bowel JPs. Gastric JP was identified as early as age 7 in a patient with an
SMAD4 gene mutation. Two patients (9%) had high-grade dysplasia in gastric JP.
Invasive adenocarcinoma was diagnosed in the gastrectomy specimen of 1 patient.
Five patients had a huge gastric polyp burden; 3 underwent total gastrectomy.
Three patients died of complications associated with extensive upper JP.
Histologically, 8 of the 56 (14%) gastric JPs identified had dysplasia. All of
the 8 polyps demonstrated intestinalized and pyloric gland differentiation
intermixed with foveolar epithelium. Dysplasia was seen arising in all 3 types of
epithelium. The flat gastric mucosa in 11 patients was unremarkable without
inflammation or intestinal metaplasia. The 6 small bowel JPs had no dysplasia.
Our findings suggest that JPS patients are at increased risk for gastric
adenocarcinoma. Detection of malignancy in syndromic gastric JP indicates that
the current screening procedures are insufficient in removal of precursor lesions
to prevent progression to carcinoma.