Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management

Valle, Laura; Monahan, Kevin J

doi:10.1016/s2468-1253(23)00240-6

Cited by 4 publications

(1 citation statement)

References 101 publications

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“…Gastrointestinal polyposis syndrome is distinguished by the occurrence of numerous polyps in the gastrointestinal tract, predominantly in the colon. 5 Among these, familial adenomatous polyposis, 6 Lynch syndrome, 7 Cowden syndrome, 8 and NTHL1 tumor syndrome 9 are associated with an elevated risk of colorectal cancer. There is a lack of literature documenting an increased risk of small bowel adenocarcinoma in individuals with gastrointestinal polyposis syndromes.…”

Section: Discussionmentioning

confidence: 99%

Synchronous Multiple Primary Malignant Adenocarcinoma of the Descending Colon and Fungating Bleeding Adenocarcinoma of the Terminal Ileum Presenting Massive Rectal Bleeding: A Trap for the Unwary

Li,

Chen,

Wang

et al. 2024

OTT

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Primary cancer of the ileum is rare, and when it occurs in conjunction with primary colon cancer, it becomes even more infrequent and challenging to diagnose prior to surgical intervention. Primary small bowel cancers can be overlooked and may be misidentified as small bowel mesenchymal tumours or advanced metastases from colon cancer. We present an exceedingly uncommon case of ruptured primary ileal cancer combined with primary descending colon cancer presenting with gastrointestinal bleeding. Based on our understanding, instances of dual tumours concurrently occurring are exceedingly infrequent. In this patient, there was a preoperative suspicion of bleeding from colon cancer in the descending region. However, intraoperative exploration revealed that the location of the bleeding was a terminal ileal mass. Following the surgical intervention, the patient recovered satisfactorily. Intraoperative exploration of the entire gastrointestinal tract is therefore necessary in patients with gastrointestinal haemorrhage, especially in those who require urgent surgery without adequate preoperative investigations. If a mass is detected at the end of the ileum, intraoperative pathology should be performed if feasible. Subsequently, if the diagnosis reveals an adenocarcinoma, terminal ileocolic resection and right hemicolectomy are necessary for appropriate resection.

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Section: Discussionmentioning

confidence: 99%

Synchronous Multiple Primary Malignant Adenocarcinoma of the Descending Colon and Fungating Bleeding Adenocarcinoma of the Terminal Ileum Presenting Massive Rectal Bleeding: A Trap for the Unwary

Li,

Chen,

Wang

et al. 2024

OTT

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Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes

Bouras,

Fabre,

Zattara

et al. 2024

Genes Chromosomes & Cancer

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A substantial number of hereditary colorectal cancer (CRC) and colonic polyposis cannot be explained by alteration in confirmed predisposition genes, such as mismatch repair (MMR) genes, APC and MUTYH. Recently, a certain number of potential predisposition genes have been suggested, involving each a small number of cases reported so far. Here, we describe the detection of rare variants in the NTLH1, AXIN2, RNF43, BUB1, and TP53 genes in nine unrelated patients who were suspected for inherited CRC and/or colonic polyposis. Seven of them were classified as pathogenic or likely pathogenic variants (PV/LPV). Clinical manifestations of carriers were largely consistent with reported cases with, nevertheless, distinct characteristics. PV/LPV in these uncommon gene can be responsible for up to 2.7% of inherited CRC or colonic polyposis syndromes. Our findings provide supporting evidence for the role of these genes in cancer predisposition, and contribute to the determination of related cancer spectrum and cancer risk for carriers, allowing for the establishment of appropriate screening strategy and genetic counseling in affected families.

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Gastrointestinal Cancer Precursor Conditions and Their Detection

Maoz,

Rodriguez,

Yurgelun

et al. 2024

Hematology/Oncology Clinics of North America

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Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management

Cited by 4 publications

References 101 publications

Synchronous Multiple Primary Malignant Adenocarcinoma of the Descending Colon and Fungating Bleeding Adenocarcinoma of the Terminal Ileum Presenting Massive Rectal Bleeding: A Trap for the Unwary

Synchronous Multiple Primary Malignant Adenocarcinoma of the Descending Colon and Fungating Bleeding Adenocarcinoma of the Terminal Ileum Presenting Massive Rectal Bleeding: A Trap for the Unwary

Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes

Gastrointestinal Cancer Precursor Conditions and Their Detection

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