Diagnostic Accuracy of Machine Learning Models on Mammography in Breast Cancer Classification: A Meta-Analysis.
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ABSTRACT:
SUBMITTER: Hanis TM
PROVIDER: S-EPMC9320089 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background: With the dearth of trained care providers to diagnose congenital heart disease (CHD) and a surge in machine learning (ML) models, this review aims to estimate the diagnostic accuracy of such models for detecting CHD. Methods: A comprehensive literature search in the PubMed, CINAHL, Wiley Cochrane Library, and Web of Science databases was performed. Studies that reported the diagnostic ability of ML for the detection of CHD compared to the reference standard were included. Risk of bias assessment was performed using Quality Assessment for Diagnostic Accuracy Studies-2 tool. The sensitivity and specificity results from the studies were used to generate the hierarchical Summary ROC (HSROC) curve. Results: We included 16 studies (1217 participants) that used ML algorithm to diagnose CHD. Neural networks were used in seven studies with overall sensitivity of 90.9% (95% CI 85.2-94.5%) and specificity was 92.7% (95% CI 86.4-96.2%). Other ML models included ensemble methods, deep learning and clustering techniques but did not have sufficient number of studies for a meta-analysis. Majority (n=11, 69%) of studies had a high risk of patient selection bias, unclear bias on index test (n=9, 56%) and flow and timing (n=12, 75%) while low risk of bias was reported for the reference standard (n=10, 62%). Conclusion: ML models such as neural networks have the potential to diagnose CHD accurately without the need for trained personnel. The heterogeneity of the diagnostic modalities used to train these models and the heterogeneity of the CHD diagnoses included between the studies is a major limitation.
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Project description:Triple negative breast cancer (TNBC) lacks well-defined molecular targets and is highly heterogenous, making treatment challenging. Using gene expression analysis, TNBC has been classified into four different subtypes: basal-like immune-activated (BLIA), basal-like immune-suppressed (BLIS), mesenchymal (MES), and luminal androgen receptor (LAR). However, there is currently no standardized method for classifying TNBC subtypes. We attempted to define a gene signature for each subtype, and to develop a classification method based on machine learning (ML) for TNBC subtyping. In these experiments, gene expression microarray data for TNBC patients were downloaded from the Gene Expression Omnibus database. Differentially expressed genes unique to 198 known TNBC cases were identified and selected as a training gene set to train in seven different classification models. We produced a training set consisting of 719 DEGs selected from uniquely expressed genes of all four subtypes. The highest average accuracy of classification of the BLIA, BLIS, MES, and LAR subtypes was achieved by the SVM algorithm (accuracy 95-98.8%; AUC 0.99-1.00). For model validation, we used 334 samples of unknown TNBC subtypes, of which 97 (29.04%), 73 (21.86%), 39 (11.68%) and 59 (17.66%) were predicted to be BLIA, BLIS, MES, and LAR, respectively. However, 66 TNBC samples (19.76%) could not be assigned to any subtype. These samples contained only three upregulated genes (EN1, PROM1, and CCL2). Each TNBC subtype had a unique gene expression pattern, which was confirmed by identification of DEGs and pathway analysis. These results indicated that our training gene set was suitable for development of classification models, and that the SVM algorithm could classify TNBC into four unique subtypes. Accurate and consistent classification of the TNBC subtypes is essential for personalized treatment and prognosis of TNBC.
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Project description:The purpose of this multicenter retrospective study was to evaluate radiomics analysis coupled with machine learning (ML) of dynamic contrast-enhanced (DCE) and diffusion-weighted imaging (DWI) radiomics models separately and combined as multiparametric MRI for improved breast cancer detection. Consecutive patients (Memorial Sloan Kettering Cancer Center, January 2018-March 2020; Medical University Vienna, from January 2011-August 2014) with a suspicious enhancing breast tumor on breast MRI categorized as BI-RADS 4 and who subsequently underwent image-guided biopsy were included. In 93 patients (mean age: 49 years ± 12 years; 100% women), there were 104 lesions (mean size: 22.8 mm; range: 7-99 mm), 46 malignant and 58 benign. Radiomics features were calculated. Subsequently, the five most significant features were fitted into multivariable modeling to produce a robust ML model for discriminating between benign and malignant lesions. A medium Gaussian support vector machine (SVM) model with five-fold cross validation was developed for each modality. A model based on DWI-extracted features achieved an AUC of 0.79 (95% CI: 0.70-0.88), whereas a model based on DCE-extracted features yielded an AUC of 0.83 (95% CI: 0.75-0.91). A multiparametric radiomics model combining DCE- and DWI-extracted features showed the best AUC (0.85; 95% CI: 0.77-0.92) and diagnostic accuracy (81.7%; 95% CI: 73.0-88.6). In conclusion, radiomics analysis coupled with ML of multiparametric MRI allows an improved evaluation of suspicious enhancing breast tumors recommended for biopsy on clinical breast MRI, facilitating accurate breast cancer diagnosis while reducing unnecessary benign breast biopsies.
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Project description:Breast cancer is a heterogeneous disease defined by molecular types and subtypes. Advances in genomic research have enabled use of precision medicine in clinical management of breast cancer. A critical unmet medical need is distinguishing triple negative breast cancer, the most aggressive and lethal form of breast cancer, from non-triple negative breast cancer. Here we propose use of a machine learning (ML) approach for classification of triple negative breast cancer and non-triple negative breast cancer patients using gene expression data. We performed analysis of RNA-Sequence data from 110 triple negative and 992 non-triple negative breast cancer tumor samples from The Cancer Genome Atlas to select the features (genes) used in the development and validation of the classification models. We evaluated four different classification models including Support Vector Machines, K-nearest neighbor, Naïve Bayes and Decision tree using features selected at different threshold levels to train the models for classifying the two types of breast cancer. For performance evaluation and validation, the proposed methods were applied to independent gene expression datasets. Among the four ML algorithms evaluated, the Support Vector Machine algorithm was able to classify breast cancer more accurately into triple negative and non-triple negative breast cancer and had less misclassification errors than the other three algorithms evaluated. The prediction results show that ML algorithms are efficient and can be used for classification of breast cancer into triple negative and non-triple negative breast cancer types.
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Project description:Metastatic Breast Cancer (MBC) is one of the primary causes of cancer-related deaths in women. Despite several limitations, histopathological information about the malignancy is used for the classification of cancer. The objective of our study is to develop a non-invasive breast cancer classification system for the diagnosis of cancer metastases. The anaconda-Jupyter notebook is used to develop various python programming modules for text mining, data processing, and Machine Learning (ML) methods. Utilizing classification model cross-validation criteria, including accuracy, AUC, and ROC, the prediction performance of the ML models is assessed. Welch Unpaired t-test was used to ascertain the statistical significance of the datasets. Text mining framework from the Electronic Medical Records (EMR) made it easier to separate the blood profile data and identify MBC patients. Monocytes revealed a noticeable mean difference between MBC patients as compared to healthy individuals. The accuracy of ML models was dramatically improved by removing outliers from the blood profile data. A Decision Tree (DT) classifier displayed an accuracy of 83% with an AUC of 0.87. Next, we deployed DT classifiers using Flask to create a web application for robust diagnosis of MBC patients. Taken together, we conclude that ML models based on blood profile data may assist physicians in selecting intensive-care MBC patients to enhance the overall survival outcome.
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Project description:Breast cancer diagnosis and staging is based on mammography, ultrasound, and magnetic resonance imaging (MRI). Contrast enhanced spectral mammography (CESM) has gained momentum as an innovative and clinically useful method for breast assessment. CESM is based on abnormal enhancement of neoplastic tissue compared to surrounding breast tissue. We performed a systematic review of prospective trial to evaluate its diagnostic performance, following standard PRISMA-DTA. We used a bivariate random-effects regression approach to obtain summary estimates of both sensitivity and specificity of CESM. 8 studies published between 2003 and 2019 were included in the meta-analysis for a total of 945 lesions. The summary area under the curve obtained from all the study was 89% [95% CI 86%-91%], with a sensitivity of 85% [95% CI 73%-93%], and a specificity of 77% [95% CI 60%-88%]. With a pre-test probability of malignancy of 57% a positive finding at CESM gives a post-test probability of 83% while a negative finding a post-test probability of 20%. CESM shows a suboptimal sensitivity and specificity in the diagnosis of breast cancer in a selected population, and at present time, it could be considered only as a possible alternative test for breast lesions assessment when mammography and ultrasound are not conclusive or MRI is contraindicated or not available.
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Project description:BackgroundDeep learning breast cancer risk models demonstrate improved accuracy compared with traditional risk models but have not been prospectively tested. We compared the accuracy of a deep learning risk score derived from the patient's prior mammogram to traditional risk scores to prospectively identify patients with cancer in a cohort due for screening.MethodsWe collected data on 119 139 bilateral screening mammograms in 57 617 consecutive patients screened at 5 facilities between September 18, 2017, and February 1, 2021. Patient demographics were retrieved from electronic medical records, cancer outcomes determined through regional tumor registry linkage, and comparisons made across risk models using Wilcoxon and Pearson χ2 2-sided tests. Deep learning, Tyrer-Cuzick, and National Cancer Institute Breast Cancer Risk Assessment Tool (NCI BCRAT) risk models were compared with respect to performance metrics and area under the receiver operating characteristic curves.ResultsCancers detected per thousand patients screened were higher in patients at increased risk by the deep learning model (8.6, 95% confidence interval [CI] = 7.9 to 9.4) compared with Tyrer-Cuzick (4.4, 95% CI = 3.9 to 4.9) and NCI BCRAT (3.8, 95% CI = 3.3 to 4.3) models (P < .001). Area under the receiver operating characteristic curves of the deep learning model (0.68, 95% CI = 0.66 to 0.70) was higher compared with Tyrer-Cuzick (0.57, 95% CI = 0.54 to 0.60) and NCI BCRAT (0.57, 95% CI = 0.54 to 0.60) models. Simulated screening of the top 50th percentile risk by the deep learning model captured statistically significantly more patients with cancer compared with Tyrer-Cuzick and NCI BCRAT models (P < .001).ConclusionsA deep learning model to assess breast cancer risk can support feasible and effective risk-based screening and is superior to traditional models to identify patients destined to develop cancer in large screening cohorts.
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Project description:BackgroundBreast invasive carcinoma (BRCA) is not a single disease as each subtype has a distinct morphology structure. Although several computational methods have been proposed to conduct breast cancer subtype identification, the specific interaction mechanisms of genes involved in the subtypes are still incomplete. To identify and explore the corresponding interaction mechanisms of genes for each subtype of breast cancer can impose an important impact on the personalized treatment for different patients.MethodsWe integrate the biological importance of genes from the gene regulatory networks to the differential expression analysis and then obtain the weighted differentially expressed genes (weighted DEGs). A gene with a high weight means it regulates more target genes and thus holds more biological importance. Besides, we constructed gene coexpression networks for control and experiment groups, and the significantly differentially interacting structures encouraged us to design the corresponding Gene Ontology (GO) enrichment based on gene coexpression networks (GOEGCN). The GOEGCN considers the two-side distinction analysis between gene coexpression networks for control and experiment groups. The method allows us to study how the modulated coexpressed gene couples impact biological functions at a GO level.ResultsWe modeled the binary classification with weighted DEGs for each subtype. The binary classifier could make a good prediction for an unseen sample, and the experimental results validated the effectiveness of our proposed approaches. The novel enriched GO terms based on GOEGCN for control and experiment groups of each subtype explain the specific biological function changes according to the two-side distinction of coexpression network structures to some extent.ConclusionThe weighted DEGs contain biological importance derived from the gene regulatory network. Based on the weighted DEGs, five binary classifiers were learned and showed good performance concerning the "Sensitivity," "Specificity," "Accuracy," "F1," and "AUC" metrics. The GOEGCN with weighted DEGs for control and experiment groups presented a novel GO enrichment analysis results and the novel enriched GO terms would further unveil the changes of specific biological functions among all the BRCA subtypes to some extent. The R code in this research is available at https://github.com/yxchspring/GOEGCN_BRCA_Subtypes.
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Project description:We proposed to compare the accuracy and effectiveness of digital breast tomosynthesis (DBT), plus digital or synthetic mammography, with digital mammography alone in women attending population-based breast cancer screenings. We performed a systematic review and included controlled studies comparing DBT with digital mammography for breast cancer screening. Search strategies were applied to the MEDLINE, Embase, LILACS, and CENTRAL databases. With moderate quality of evidence, in 1,000 screens, DBT plus digital mammography increased the overall and invasive breast cancer rates by 3 and 2 (RR 1.36, 95% CI 1.18 to 1.58 and RR 1.51, 95% CI 1.27 to 1.79, respectively). DBT plus synthetic mammography increased both overall and invasive breast cancer rates by 2 (RR 1.38, 95% CI 1.24 to 1.54 and RR 1.37, 95% CI 1.22 to 1.55, respectively). DBT did not improve recall, false positive and false negative rates. However due to heterogeneity the quality of evidence was low. For women attending population-based breast cancer screenings, DBT increases rates of overall and invasive breast cancer. There is no evidence with high or moderate quality showing that DBT compared with digital mammography decreases recall rates, as well as false positive and false negative rates.
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