Introduction: In patients with familial adenomatous polyposis, the Spigelman classification is recommended for staging and risk stratification of duodenal adenomatosis. Although the classification has been used for decades, it has never been formally validated.

Methods: We included consecutive FAP patients undergoing upper gastrointestinal endoscopic surveillance and evaluated the inter- and intrarater reliability of the Spigelman classification.

Results: The interrater reliability of the endoscopic parameters and the Spigelman classification was good and excellent, respectively. The intrarater reliability of the endoscopic parameters and the Spigelman classification was moderate and good, respectively.

Discussion: The results support continued use of the Spigelman classification as the primary end point for future studies and as key endoscopic performance measure.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812431PMC
http://dx.doi.org/10.14309/ajg.0000000000001582DOI Listing

Publication Analysis

Top Keywords

spigelman classification
20
intrarater reliability
12
duodenal adenomatosis
8
familial adenomatous
8
adenomatous polyposis
8
reliability endoscopic
8
endoscopic parameters
8
parameters spigelman
8
spigelman
6
classification
6

Similar Publications

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Transl Oncol

January 2025

Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, 3010, Australia. Electronic address: https://twitter.com/petergeorgeson.

Background: Colorectal cancers (CRCs) from people with biallelic germline likely pathogenic/pathogenic variants in MUTYH or NTHL1 exhibit specific single base substitution (SBS) mutational signatures, namely combined SBS18 and SBS36 (SBS18+SBS36), and SBS30, respectively. The aim was to determine if adenomas from biallelic cases demonstrated these mutational signatures at diagnostic levels.

Methods: Whole-exome sequencing of FFPE tissue and matched blood-derived DNA was performed on 9 adenomas and 15 CRCs from 13 biallelic MUTYH cases, on 7 adenomas and 2 CRCs from 5 biallelic NTHL1 cases and on 27 adenomas and 26 CRCs from 46 non-hereditary (sporadic) participants.

View Article and Find Full Text PDF

(1) Background: Familial adenomatous polyposis (FAP) is a hereditary condition characterized by the development of numerous adenomas in the large intestine, often necessitating colectomy due to an elevated risk of colorectal cancer. Despite surgical intervention, adenomas frequently recur, underscoring the importance of ongoing surveillance. This study evaluates the outcomes of a 12-year endoscopic follow-up after colectomy and gastrointestinal reconstruction for FAP.

View Article and Find Full Text PDF
Article Synopsis
  • In familial adenomatous polyposis (FAP) patients, fundic gland polyps (FGPs) are thought to increase the risk of gastric neoplasms, and this study explored how the distribution of these polyps relates to cancer development.
  • A review of 195 FAP patients showed that those with a wider distribution of FGPs (classified from P0 to P4) had a higher likelihood of developing gastric neoplasms, particularly in those who were Helicobacter pylori-negative.
  • The study concluded that the pattern of FGP distribution is significantly linked to gastric neoplasm risk in FAP patients, with the most severe distribution (P4) indicating the highest risk.
View Article and Find Full Text PDF
Article Synopsis
  • Colorectal cancers (CRCs) linked to biallelic germline variants show specific mutational signatures (SBS18+SBS36 and SBS30) that could also be present in adenomas, which are precursors to CRCs.
  • A study sequenced DNA from adenomas and CRCs in biallelic cases and compared them with sporadic cases to investigate these signatures.
  • Results indicated that adenomas in biallelic cases had similar mutational signature proportions as their corresponding CRCs, suggesting testing adenomas could enhance the detection of biallelic cases and improve variant classification for better CRC prevention strategies.
View Article and Find Full Text PDF
Article Synopsis
  • There is inconsistency in how to measure disease severity in familial adenomatous polyposis (FAP), prompting a systematic review of existing endoscopic severity indices.
  • A total of 134 studies were analyzed, revealing partial validation for certain aspects like polyp count and size, with the Spigelman classification system being the most widely used and exhibiting strong reliability in some observations.
  • No endoscopic severity index for FAP has been fully validated, indicating a need for the development of reliable tools to enhance clinical care and research on FAP treatments.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!