MUTYH- associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview

Abstract

Background: The presence of Spigelman stage (SS) IV duodenal polyposis is considered the most significant risk factor for duodenal cancer in patients with MUTYH-associated polyposis (MAP). However, advanced SS disease is rarely reported in MAP patients, and no clear recommendations on small bowel (SB) surveillance have been proposed in this patient setting.

Aim: To research more because that case reports of duodenal cancers in MAP suggest that they may develop in the absence of advanced benign SS disease and often involve the distal portion of the duodenum.

Methods: We describe a series of MAP patients followed up at the Regina Elena National Cancer Institute of Rome (Italy). A literature overview on previously reported SB cancers in MAP is also provided.

Results: We identified two (6%) SB adenocarcinomas with no previous history of duodenal polyposis. Our observations, supported by literature evidence, suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer may need to be adjusted to take this into account rather than focusing solely on the presence or absence of SS IV disease.

Conclusion: Our study emphasizes the need for further studies to define appropriate upper gastrointestinal surveillance programs in MAP patients.

Keywords: Case report; Duodenal adenomatosis; Duodenal cancer; Endoscopic management; MUTYH-associated polyposis.

Figure 1

Endoscopic and histopathological features of the two cases of small bowel cancer identified. A: Upper push-enteroscopy in the first patient showed a vegetate-ulcerative lesion located 100-105 cm from the incisors, involving at least three-quarters of the luminal circumference, that causes partial stenosis of the lumen that could be passed through, anyway. There was a small clot in the distal portion, but the lesion was not actively bleeding. Multiple biopsies were taken, and the diagnosis was adenocarcinoma of the distal duodenum; B: Upper push-enteroscopy in the second patient showed an ulcerative lesion located 120-130 cm from the incisors, actively bleeding, involving at least two-thirds of the luminal circumference, with a clot in the mid portion. Multiple biopsies were taken and after clot removal, hemospray was applied to the tumor surface and complete hemostasis was obtained. Tattooing was then performed. The diagnosis was adenocarcinoma of the proximal jejunum; C: Hematoxylin-eosin staining in the first patient, 5 ×. Low magnification reveals two bioptic fragments. The first, on the right, of normal small intestine and the second, on the left, of fibrous/granulation tissue, show variably sized glands and desmoplasia, indicative of adenocarcinoma; D: Hematoxylin-eosin staining in the second patient, 5 ×. Low magnification reveals a single bioptic fragment of fibrous tissue showing variably sized glands with moderate/severe atypia (loss of normal glandular architecture) and desmoplasia, indicative of adenocarcinoma; E: Hematoxylin-eosin staining in the first patient, 20 ×. On higher magnification, solid nests and sheets and few and small poorly-formed glands contain enlarged, hyperchromatic cells with loss of mucin, nuclei with prominent eosinophilic nucleoli and irregular nuclear membranes in a desmoplastic stroma, diagnostic of invasive adenocarcinoma; F: Hematoxylin-eosin staining in the second patient, 20 ×. High magnification shows marked cytological atypia (the cells are hyperchromatic with loss of mucin and contain nuclei with prominent eosinophilic nucleoli and irregular nuclear membranes) forming marked atypical glands with intraluminal apoptotic and inflammatory debris in a desmoplastic stroma, suggestive of invasive adenocarcinoma.