Hamartomatous polyposis syndrome associated malignancies: Risk, pathogenesis and endoscopic surveillance

Liu, Shuang; Ma, Yuju; You, Wen; Li, Ji; Qian, Jiaming

doi:10.1111/1751-2980.13029

Cited by 8 publications

(8 citation statements)

References 67 publications

(97 reference statements)

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“…By contrast, solitary JPS is frequently less predictive of a malignant tumor tendency ( 8 ). Juvenile polyps of the colorectum are the most common type of polyp in children but are rare in adults ( 9 , 10 ). The present case report provides details on the diagnosis and treatment process of an adult solitary juvenile rectal polyp with elevated fecal calprotectin (FCP).…”

Section: Introductionmentioning

confidence: 99%

A solitary rectal juvenile polyp with chicken skin‑like changes in the surrounding mucosa in an adult: A case report

et al. 2023

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The majority of colorectal polyps in adults are adenomatous polyps, while hamartoma polyps are rare. Juvenile polyps are the most common type of polyp in children; however, they are rare in adults. Fecal calprotectin (FCP) is commonly elevated in inflammatory bowel disease and is rarely studied in juvenile rectal polyps. Reports of elevated FCP in solitary juvenile rectal polyps of adults are rare. A 57-year-old female was admitted to The Affiliated Hospital of Qingdao University (Qingdao, China) for treatment due to intermittent stool with mucus and blood. Colonoscopy revealed a solitary polyp in the rectum with a diameter of ~2.0 cm, a short and wide subpedicle, with congested and swollen mucosa on the surface and chicken skin-like changes in the surrounding mucosa. The patient had no family history of colorectal polyps or cancer. Endoscopic submucosal dissection was used to remove the polyp. Histopathological examination indicated that the polyp was a juvenile polyp and no signs of malignancy were found. The present case report describes details on this case of an adult patient with a solitary juvenile rectal polyp with chicken skin-like changes in the surrounding mucosa and high FCP.

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Section: Introductionmentioning

confidence: 99%

A solitary rectal juvenile polyp with chicken skin‑like changes in the surrounding mucosa in an adult: A case report

et al. 2023

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“…Intermediate‐ to full‐dose corticosteroids is the first choice for the induction of remission in active CCS, whereas a low‐dose corticosteroid (prednisone <10 mg/d) or azathioprine is usually used for the maintenance therapy 4 . Whether diffuse gastrointestinal polyps in CCS possess malignant potential remains controversial 5 . A national survey in Japan showed that CCS patients had an increased lifetime risk of gastrointestinal cancer compared to the general population, with gastric cancer and colonic cancer detected in 9.1% and 19.5% of cases, respectively 2 .…”

Section: Introductionmentioning

confidence: 99%

“…4 Whether diffuse gastrointestinal polyps in CCS possess malignant potential remains controversial. 5 A national survey in Japan showed that CCS patients had an increased lifetime risk of gastrointestinal cancer compared to the general population, with gastric cancer and colonic cancer detected in 9.1% and 19.5% of cases, respectively. 2 Polyps are also accompanied by adenomatous changes occurring in the stomach, duodenum, and colorectum.…”

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Endoscopic features help to identify the histopathological patterns of colorectal polyps in Cronkhite–Canada syndrome

You

Liu

et al. 2023

J of Digest Diseases

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ObjectivesCronkhite–Canada syndrome (CCS) is a rare nonhereditary gastrointestinal hamartomatous polyposis syndrome with a high risk of colorectal cancerogenesis. It is challenging to discriminate adenomas from nonneoplastic colorectal polyps macroscopically. This study aimed to explore the endoscopic features of different histopathological patterns of colorectal polyps in CCS.MethodsSixty‐seven lesions from 23 CCS patients were prospectively biopsied or resected during the colonoscopic examination for histopathological analysis. The Fisher's exact test and multivariate logistical analysis were conducted to reveal the predictive endoscopic features of CCS polyps with low‐grade dysplasia (LGD) and adenomas.ResultsThere were seven (10.4%) adenomas, 20 (29.9%) CCS‐LGD, and 40 (59.7%) nonneoplastic CCS polyps. Polyps were large (>20 mm) in none of the adenomas, 30.0% of CCS‐LGD polyps, and 2.5% of nonneoplastic CCS polyps (P < 0.001). The color of the polyps was whitish for 71.4% of adenomas, 10.0% of CCS‐LGD polyps, and 15.0% of nonneoplastic CCS polyps (P = 0.004). Pedunculated polyps were detected in 42.9% of adenomas, 45.0% of CCS‐LGD polyps, and 5.0% of nonneoplastic CCS polyps (P < 0.001). The proportions of types IV and VI in the Kudo classification were 42.9%, 95.0%, and 35.0% in adenomatous, CCS‐LGD, and nonneoplastic CCS polyps, respectively (P = 0.002). The endoscopic activity was in remission for 71.4% of adenomas, 5.0% of CCS‐LGD polyps, and 10.0% of nonneoplastic CCS polyps (P < 0.001).ConclusionEndoscopic features, including the size, color, sessility, Kudo's pit pattern classification of polyps, and endoscopic activity, help identify the histopathological patterns of colorectal polyps in CCS.

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“…However, such association needs to be further confirmed. Our previous study showed an improved 5‐year survival rate of CCS, 8 but the unclear pathogenesis and its high malignant potential still hinder further improvement in disease management 9 …”

Section: Introductionmentioning

confidence: 99%

“…Our previous study showed an improved 5-year survival rate of CCS, 8 but the unclear pathogenesis and its high malignant potential still hinder further improvement in disease management. 9 CCS is a syndrome characterized by hamartomatous GI polyps and other extraintestinal manifestations; therefore, it is sometimes categorized as one of the hamartomatous polyposis syndromes (HPS), which include juvenile polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), PTEN hamartoma tumor syndrome (PHTS), and other syndromes with multiple hamartomas. 10 The majority of HPS are hereditary syndromes, with a series of HPS-associated genes identified in certain syndromes.…”

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confidence: 99%

The genomic landscape of Cronkhite–Canada syndrome: Possible clues for pathogenesis

Liu

Zhang

You

et al. 2022

J of Digest Diseases

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Objectives: Cronkhite-Canada syndrome (CCS) is a rare hamartomatous polyposis syndrome with a proposed association with chronic autoimmune inflammation. To date, genetic background of patients with CCS remains less investigated. In this study we aimed to explore the genomic landscape of CCS.Methods: Whole exome sequencing was performed on peripheral blood samples extracted from 18 patients with CCS. Potential function-impacting germline variants were filtered by R software. Through systematic data analysis, a number of genetic variants were identified. Enrichment analysis was performed using the R package ClusterProfiler.Results: Overall, 3960 low-frequency (<0.05 or not reported in the Exome Aggregation Consortium East Asian, 1000 Genomes, or ESP6500 database) potentially functionimpacting germline variants were identified, with 18 genes (FDFT1,

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Hamartomatous polyposis syndrome associated malignancies: Risk, pathogenesis and endoscopic surveillance

Cited by 8 publications

References 67 publications

A solitary rectal juvenile polyp with chicken skin‑like changes in the surrounding mucosa in an adult: A case report

A solitary rectal juvenile polyp with chicken skin‑like changes in the surrounding mucosa in an adult: A case report

Endoscopic features help to identify the histopathological patterns of colorectal polyps in Cronkhite–Canada syndrome

The genomic landscape of Cronkhite–Canada syndrome: Possible clues for pathogenesis

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