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Prioritization of Fluorescence In Situ Hybridization (FISH) Probes for Differentiating Primary Sites of Neuroendocrine Tumors with Machine Learning
Journal article   Open access   Peer reviewed

Prioritization of Fluorescence In Situ Hybridization (FISH) Probes for Differentiating Primary Sites of Neuroendocrine Tumors with Machine Learning

Lucas Pietan, Hayley Vaughn, James R Howe, Andrew M Bellizzi, Brian J Smith, Benjamin Darbro, Terry Braun and Thomas Casavant
International journal of molecular sciences, Vol.24(24), 17401
12/15/2023
DOI: 10.3390/ijms242417401
PMCID: PMC10743810
PMID: 38139230
url
https://doi.org/10.3390/ijms242417401View
Published (Version of record) Open Access

Abstract

Determining neuroendocrine tumor (NET) primary sites is pivotal for patient care as pancreatic NETs (pNETs) and small bowel NETs (sbNETs) have distinct treatment approaches. The diagnostic power and prioritization of fluorescence in situ hybridization (FISH) assay biomarkers for establishing primary sites has not been thoroughly investigated using machine learning (ML) techniques. We trained ML models on FISH assay metrics from 85 sbNET and 59 pNET samples for primary site prediction. Exploring multiple methods for imputing missing data, the impute-by-median dataset coupled with a support vector machine model achieved the highest classification accuracy of 93.1% on a held-out test set, with the top importance variables originating from the FISH probe. Due to the greater interpretability of decision tree (DT) models, we fit DT models to ten dataset splits, achieving optimal performance with k-nearest neighbor (KNN) imputed data and a transformation to single categorical biomarker probe variables, with a mean accuracy of 81.4%, on held-out test sets. and variables ranked as top-performing features in 9 of 10 DT models and the full dataset model. These findings offer probabilistic guidance for FISH testing, emphasizing the prioritization of the , , and FISH probes in diagnosing NET primary sites.
Machine Learning fluorescence in situ hybridization neuroendocrine tumor model imputation biomarker

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