Predictive modeling for the germline pathogenic variant of the APC gene in patients with adenomatous polyposis: proposing a new APC score.
APC score
Familial adenomatous polyposis
Genetic testing
Polyposis
Journal
Surgery today
ISSN: 1436-2813
Titre abrégé: Surg Today
Pays: Japan
ID NLM: 9204360
Informations de publication
Date de publication:
06 Jul 2024
06 Jul 2024
Historique:
received:
08
03
2024
accepted:
23
06
2024
medline:
6
7
2024
pubmed:
6
7
2024
entrez:
6
7
2024
Statut:
aheadofprint
Résumé
The precise diagnosis and medical management of patients with suspected familial adenomatous polyposis should be based on genetic testing, which may not always be available. Therefore, establishing a new model for predicting the likelihood of a germline pathogenic variant (GPV) of APC based on its clinical manifestations could prove to be useful in clinical practice. The presence of GPVs of APC gene was investigated in 162 patients with adenomatous polyposis (≥ 10 polyps) using a multigene panel or single-gene testing. To generate a predictive model for GPV of the APC gene, a logistic regression analysis was performed using the clinicopathological variables available at the time of the diagnosis of adenomatous polyposis. Ninety (55.6%) patients had GPV of the APC gene. According to a multivariate logistic regression analysis, age < 40 years, polyps ≥ 100, fundic gland polyposis, and a family history of colorectal polyposis were found to be independent predictors of the GPV of APC and were used to establish a formula for predicting the GPV of APC using the four predictors. The prediction model had an area under the curve of 0.91 (0.86-0.96) according to a receiver operating characteristic analysis. The model for predicting the GPV of APC will help patients with adenomatous polyposis and physicians make decisions about genetic testing.
Sections du résumé
BACKGROUND
BACKGROUND
The precise diagnosis and medical management of patients with suspected familial adenomatous polyposis should be based on genetic testing, which may not always be available. Therefore, establishing a new model for predicting the likelihood of a germline pathogenic variant (GPV) of APC based on its clinical manifestations could prove to be useful in clinical practice.
METHODS
METHODS
The presence of GPVs of APC gene was investigated in 162 patients with adenomatous polyposis (≥ 10 polyps) using a multigene panel or single-gene testing. To generate a predictive model for GPV of the APC gene, a logistic regression analysis was performed using the clinicopathological variables available at the time of the diagnosis of adenomatous polyposis.
RESULTS
RESULTS
Ninety (55.6%) patients had GPV of the APC gene. According to a multivariate logistic regression analysis, age < 40 years, polyps ≥ 100, fundic gland polyposis, and a family history of colorectal polyposis were found to be independent predictors of the GPV of APC and were used to establish a formula for predicting the GPV of APC using the four predictors. The prediction model had an area under the curve of 0.91 (0.86-0.96) according to a receiver operating characteristic analysis.
CONCLUSION
CONCLUSIONS
The model for predicting the GPV of APC will help patients with adenomatous polyposis and physicians make decisions about genetic testing.
Identifiants
pubmed: 38970662
doi: 10.1007/s00595-024-02894-y
pii: 10.1007/s00595-024-02894-y
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s) under exclusive licence to Springer Nature Singapore Pte Ltd.
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