EXPLAINABLE ARTIFICIAL INTELLIGENCE (AI) IN COLORECTAL

CANCER DETECTION. A SYSTEMATIC REVIEW

Nanyangwe Rachael 202208075

Abstract

The research study was based on twenty-five (25) articles, journals and conference papers. In
this study the most frequently used artificial intelligence algorithm were Deep neural network
(DNN) at 18%, followed by Random forest (RF) at 15%, followed by Logistic Regression
(LR) at 11%, followed by Naive Bayes (NB) at 8%, followed by K-nearest neighbours (KNN)
, Decision tree learning (DT) and Convolutional neural networks(CNN) all at 7%, followed by
Computer aided detection (CAD) , and K-nearest neighbours (KNN) both at 3%, followed by
convolutional neural network , J48 algorithm , Shapley Additive Explanations (SHAP), and
SparCC algorithm all at 2%. Deep neural network (DNN) algorithms were preferred by most
researchers because, it enables better efficiency in utilizing parameters and learning the
relationship between input and output. The most frequently used datasets were Operational
taxonomic units (OTUs) at 29%, followed by16S rRNA microbiome data at 14%, followed by
Oral microbiota and Histopathology image both at 7%, followed by Pathological whole-slide
image (WSI), Colorectal polyps, Colonoscopy video images, and Shotgun metagenomic data
all at 5%, followed by Microscopy images, Autofluorescence imaging, Color imaging, Omics
data, Endoscopic imaging, Tongue coating microbiome, Microbial genomic DNA, Microbiome
datasets, Gut microbiome, Whole genome sequencing (WGS) all at 2%. Operational taxonomic
units (OTUs) were most preferred because, it is easy to collect and also due to the absence of
traditional biological classification systems, OTUs are used as pragmatic substituted terms for
microbial individuals at different taxonomic levels. The twenty-five (25) papers were retrieved
from the internet between the years 2014 to 2023. The research was narrowed to 9 years, which
consisted of the relevant papers required for the research.

Keywords: Colorectal Cancer, Artificial Intelligence (AI), Machine Learning (ML), Deep
Learning (DL), Datasets, Computer aided detection and diagnosis (CAD).

1
1.0 Introduction

Colorectal cancer is one of the deadliest gastrointestinal cancers in the world (Alboaneen et
al. 2023). It is very crucial to detect the cancer early, in order have an effective treatment for
the patient. Artificial intelligence is a technology that has been introduced in the medical
industry to analyse images and text datasets obtained from individuals with colorectal cancer
(Davri et al. 2022). The objective of this paper is to a review paper on explainable AI in
colorectal cancer detection, by considering both image and microbiome-based cancer
detection.

Colorectal cancer (CRC) is the second most common cancer in women and the third most
common in men, with an increasing incidence. Pathology diagnosis complemente d with
prognostic and predictive biomarker information is the first step for personalized treatment
(Davri et al. 2022). Cancer is the manifestation of abnormalities of different physiological
processes involving genes, DNAs, RNAs, proteins, and other biomolecules . Artificial
intelligence (AI) is the most effective tool for the analysis and understanding of colorectal
cancer in patients (Biswas and Chakrabarti 2020). Colorectal contribute to approximately
33.33% deaths in the world. It serves as the second most prevalent malignant tumor type in the
world (Burns et al. 2018). Accurate and robust pathological image analysis for colorectal cancer
(CRC) diagnosis is time consuming and knowledge intensive, but is essential for CRC patient’s
treatment. The current heavy workload of pathologists in clinics or hospitals may easily lead
to unconscious misdiagnosis of CRC based on daily image analyses (Wang et al. 2021).

Artificial intelligence (AI) is a relatively new branch of computer science involving many
disciplines and technologies, including robotics, speech recognition, natural language and
image recognition or processing, and machine learning. Recently, AI has been widely applied
in the medical field. The effective combination of AI and big data can provide convenient and
efficient medical services for patients. Colorectal cancer (CRC) is a common type of
gastrointestinal cancer. The early diagnosis and treatment of CRC are key factors affecting its
prognosis. This review summarizes the research progress and clinical application value of AI
in the investigation, early diagnosis, treatment, and prognosis of CRC, to provide a
comprehensive theoretical basis for AI as a promising diagnostic and treatment tool for CRC

(Wang et al. 2020).

Artificial intelligence is a technology that enables computers to mimic human intelligence,

using logic, if-then rules, decision tree, and machine learning. Machine learning is a subset of

2
artificial intelligence including statistical techniques enabling machines to improve at tasks
with experience. Deep learning is a part of a broader family of machine methods based on
artificial neural networks with representation learning. A deep neural network is an artificial
neural network with multiple layers between the input and output layers (Sinagra et al. 2020).

Colonoscopy remains the standard strategy for screening of colorectal cancer around the world
due to its efficacy in both detecting adenomatous or precancerous lesions and the capacity to
remove them intra-procedurally. Computer aided detection and diagnosis (CAD), thanks to the
brand-new developed innovations of artificial intelligence, and especially deep learning
techniques, leads to a promising solution to human biases in performance by guarantying
decision support during colonoscopy. The application of CAD on real-time colonoscopy helps
increasing the adenoma detection rate, and therefore contributes to reduce the incidence of
interval cancers improving the effectiveness of colonoscopy screening on critical outcome such
as colorectal cancer related mortality. Furthermore, a significant redu ction in costs is also
expected. In addition, the assistance of the machine will lead to a reduction of the examination
time and therefore an optimization of the endoscopic schedule (Sinagra et al. 2020).

The layout of the rest of the article is as follows: chapter 2 discusses the related works in line
with the focus area which is mobile design patterns, chapter 3 deals with the research criteria
and bring out the research questions, search procedure and how the screening of the primary
studies were done. Chapter 4 which describes the classification, followed by results and
discussions (chapter 5), then lastly chapter 6 conclude the study of the research.

3
2.0 Review of Related Works

In this research study (Alboaneen et al. 2023) carried out a systematically review research on
Artificial Intelligence based Machine Learning (ML) and Deep Learning (DL) techniques
applied to the modelling of colorectal cancer. They reviewed 42 studies on the application of
Machine Learning and Deep Learning for colorectal cancer detection and diagnosis. All work
collected were classified into three major categories: aim of the prediction, the method of the
prediction, and the dataset used in the prediction. They discovered that most of the studies
conducted focused on developing predictive models using Machine Learning or Deep Learning
approaches aimed at predicting a normal or abnormal state either using a public or collected
dataset.

This study analyses and summarizes the research progress and clinical application value of AI
technologies in CRC screening, diagnosis, treatment, and prognosis, demonstrating the current
status of the AI in the main clinical stages. The study showed a great application potential in
various clinical aspects of CRC, allowing machines to assist clinicians in many important tasks,
such as colorectal polyp detection, qualitative and staging diagnosis of CRC, therapeutic
assessment, as well as recurrence and survival prediction. The power of AI is poi sed to make
practice-changing impacts on the clinical field of CRC. Several challenges faced in this area
are the validation and generalizability of the clinical predictive models, the construction of
interpretable models, concerns over prospective and multicentre evaluation, and the safe
management and use of clinical data (Qiu et al. 2022).

In the study conducted by (Sun, Fan, and Zhao 2022) It was discovered that in the early stages
of colorectal cancer about 90% patients can survive for at least 5 years. Due to insignificant
symptoms in early stages, most patients are diagnosed at terminal stage. They introduced an
existing colorectal cancer screening methods based on gut microbiome to non-invasive
diagnostic methods. The proposed colorectal cancer detection and prediction using the gut
microbiome, showed a potential that could improve detection accuracy as well as reduce costs.

In this study (Baxter et al. 2016) did a study on the importance of early Colorectal cancer (CRC)
detection. Based on the discovery, it was noted that the identified shifts in the composition of
the gut microbiota associated with the progression of CRC, suggested that the gut microbiota
represented a reservoir of biomarkers that complemented existing non-invasive methods such
as fecal immunochemical test (FIT). They sequenced the 16S rRNA genes from the stool
samples of 490 patients and used the relative abundances of the bacterial populations from each

4
sample to develop a random forest classification model that detects colonic lesions using the
relative abundance of gut microbiota and the concentration of haemoglobin in stool. The results
showed that the microbiota-based random forest model detected 91.7 % of cancers and 45.5 %
of adenomas while FIT alone detected 75.0 % and 15.7 %, respectively. Of the colonic lesions
missed by FIT, the model detected 70.0 % of cancers and 37.7 % of adenomas.

Globally, colorectal cancer is the third most diagnosed malignancy. It causes significant
mortality and morbidity, which can be reduced by early diagnosis with an effective screening
test. Integrating artificial intelligence (AI) and computer-aided detection (CAD) with screening
methods has shown promising colorectal cancer screening results. AI could provide a “second
look” for endoscopists to decrease the rate of missed polyps during a colonoscopy. It can also
improve detection and characterization of polyps by integration with colonoscopy and various
advanced endoscopic modalities such as magnifying narrow-band imaging, endocytoscopy,
confocal endomicroscopy, laser-induced fluorescence spectroscopy, and magnifying
chromoendoscopy (Goyal et al. 2020).

In this study (Yin et al. 2023) showed how computer-aided detection systems can significantly
improve the polyp and adenoma detection rate by early colonoscopy screening, thereby
lowering the possibility of mutating into CRC. Machine learning and bioinformatics analysis
can help screen and identify more CRC biomarkers to provide the basis for non -invasive
screening. The Convolutional neural networks can assist in reading histopathologic tissue
images, reducing the experience difference among doctors. Various studies have shown that
AI-based high-level auxiliary diagnostic systems can significantly improve the readability of
medical images and help clinicians make more accurate diagnostic and therapeutic decisions.
AI will make greater contributions to the diagnosis and treatment of CRC in the era of precision
medicine.

In this study (Zhou and Sun 2022) described a machine learning method for gut microbiome
data to assist in diagnosing colorectal cancer. Their methodology integrated feature
engineering, mediation analysis, statistical modelling, and network analysis into a novel unified
pipeline. The pipeline showed an 8.7% higher prediction accuracy and 13% higher area under
the receiver operator characteristic curve than other published work. This approach highlighted
important colorectal cancer-related taxa for prioritization, such as high levels of Bacteroides
fragilis, which can help elucidate disease pathology. The proposed machine learning pipeline

5
algorithms boosted Colorectal cancer prediction using either 16 S rRNA microbiome data or
shotgun metagenomics data.

(Ai et al. 2017) conducted a study to Predict colorectal cancer (CRC) based on fecal microbiota
for non-invasive screening of CRC. Supervised machine learning models were used to predict
CRC. the results showed that Bayes Net and Random Forest displayed higher accuracies than
other algorithms. Bayes Net was found with a lower false negative rate than that of Random
Forest. Gut microbiota-based prediction was more accurate than the standard fecal occult blood
test (FOBT), and the combination of both approaches further improved the prediction accuracy.
When unclassified OTUs were used as input, the Bayes DMNB text algorithm achieved higher
accuracy for predicting CRC based on the compositions of gut microbiota.

(Wang et al. 2021),proposed a deep convolutional neural network in artificial intelligence (AI),
for clinic CRC diagnosis using weakly labelled pathological whole-slide image (WSI) patches.
This approach was trained and validated using an unprecedented and enormously large number
of 170,099 patches, > 14,680 WSIs, from > 9631 subjects that covered diverse and
representative clinical cases from multi-independent-sources across China, the USA, and
Germany. The results showed that the method performed best among the application of other
AI methods.

In this study (Burns et al. 2018) proposed a used multi-class tissue feature, and proposed an
Ensemble Deep Neural Network for the identification of tumor cells from Colorectal
histopathological images. The public datasets used where NCT-CRC-HE-100K (107,180
images) and Colorectal Histology (5000 images). The results showed an accuracy of 96.16%
and 92.83%, respectively. Combining the two public datasets provided a benchmark accuracy
of 99.13%.

In this study (Korbar et al. 2017) discussed the histopathological of colorectal polyps as a
critical characterization for determining the risk of colorectal cancer and future rates of
surveillance for patients. They proposed an automatic image analysis method that accurately
classify different types of colorectal polyps on whole-slide images to help pathologists with
this characterization and diagnosis. The design method is based on deep learning techniques
for various whole-slide medical image analysis. The method included five common types of
polyps such as hyperplastic, sessile serrated, traditional serrated, tubular, and
tubulovillous/villous from the US Multi society Task Force guidelines for colorectal cancer
risk assessment and surveillance. The results showed that the proposed method reduced the

6
cognitive burden on pathologists and improve their efficacy in histopathological
characterization of colorectal polyps and in subsequent risk assessment. The results against the
measured matrices where; accuracy: 93.0%; precision: 89.7%; recall: 88.3%; F1 score: 88.8%.
Therefore, the outcomes of this project can potentially increase the coverage and accuracy of
colorectal cancer screening programs and overall reduce colorectal cancer mortality.

7
3.0 Research method

The research methods section is a crucial part of this study as it will shape the direction of the
study. The research questions will be formulated here, then search procedure as well as the
screening of primary studies.

3.1 Research questions

RQ1. What are the frequently used artificial intelligence algorithm colorectal cancer detection?

RQ2. What are the most frequently used dataset in the detection of colorectal cancer detection?

RQ3. What are the publication years of the papers under review?

RQ4. What are the outstanding works of the papers under review?

3.2 Research procedure

This study made use of electronic databases over the internet to gather the required papers. The
following search string were used to look for papers of interest of the study.

▪ “Artificial Intelligence” AND “Colorectal Cancer”

▪ “Artificial Intelligence” AND “Colorectal Cancer” AND “images” AND “ microbiome ”
AND “cancer detection”;
▪ “Colorectal Cancer” AND “images” AND “ microbiome ” AND “cancer detection”;
▪ “Artificial Intelligence” AND “Colorectal Cancer” AND “machine learning algorithm”
▪ “Artificial Intelligence” AND “Colorectal Cancer” AND “deep learning”
▪ “Artificial Intelligence” AND “Colorectal Cancer” AND “feature selection algorithm”

3.3 Screening Primary Studies

This study was an individual work tasked to come up with not less than 25 quality papers. The
papers that passed the criteria were those that were written within the last 9 years (2014-2023).
Papers not written in English and those published before 2018 where excluded.

8
4.0 The Classification Scheme

Figure 1 below is a summary of the classification categories. Structured according to the

research of interest with respect to predefined research questions.

Figure 1: classification scheme

9
5.0 Results and Discussion

5.1 Frequently used Dataset in Colorectal Cancer Detection

From the twenty-five (25) papers reviewed, the most frequently used datasets were Operational
taxonomic units (OTUs) at 29%, followed by16S rRNA microbiome data at 14%, followed by
Oral microbiota and Histopathology image both at 7%, followed by Pathological whole-slide
image (WSI), Colorectal polyps, Colonoscopy video images, and Shotgun metagenomic data
all at 5%, followed by Microscopy images, Autofluorescence imaging, Color imaging, Omics
data, Endoscopic imaging, Tongue coating microbiome, Microbial genomic DNA, Microbiome
datasets, Gut microbiome, Whole genome sequencing (WGS) all at 2%. Figure 2 shows
frequently used datasets in the detection of colorectal cancer in the reviewed papers.

Frequently used Dataset in the Detection of

Colorectal Cancer

Whole genome sequencing (WGS)

Gut microbiome

2% 2% 2% 16 S rRNA microbiome data

7%
Microbiome datasets
5% 14%
Shotgun metagenomic data
2%
Microbial genomic DNA
2%
2% Oral microbiota
5%
Operational taxonomic units (OTUs)
5%
2% Tongue coating microbiome
2% 2%
Colonoscopic video images
5% Endoscopic imaging
7%
2% Omics data
Colorectal polyps
Color imaging
29%
Autofluorescence imaging
Pathological whole-slide image (WSI)
Histopathology image
Microscopy images

Figure 2: Most Frequently used Artificial Intelligence (AI) Algorithm

10
5.2 Frequently used Artificial Intelligence Algorithm Colorectal Cancer Detection

From the twenty-five (25) papers reviewed, the most frequently used Artificial Intelligence
algorithm were Deep neural network (DNN) at 18%, followed by Random forest (RF) at 15%,
followed by Logistic Regression (LR) at 11%, followed by Naive Bayes (NB) at 8%, followed
by K-nearest neighbours (KNN) , Decision tree learning (DT) and Convolutional neural
networks(CNN) all at 7%, followed by Computer aided detection and diagnosis (CAD) , and
K-nearest neighbours (KNN) both at 3%, followed by convolutional neural network , J48
algorithm , Shapley Additive Explanations (SHAP), and SparCC algorithm all at 2%. Figure
3 shows frequently used Artificial Intelligence Algorithm Colorectal Cancer Detection in the
reviewed papers.

Frequently Used Artificial Intelligence Algorithm

in Colorectal Cancer Detection

Convolutional neural networks(CNN)

Computeraided detection and diagnosis (CAD)

2%2% 6%
3% Decision tree learning (DT)
15%
7% convolutional neural network
2% Deep neural network (DNN)

8% XGBoost

J48 algorithm
18%
K-nearest neighbours (KNN)

11% support vector machines (SVM)

LASSO algorithm
3%
3% 2% Logistic Regression (LR)
11% 7%
Naive Bayes (NB)

Random forest (RF)

Shapley Additive Explanations (SHAP)

SparCC algorithm

Figure 3: Most Frequently used Dataset in the Detection of Colorectal Cancer

11
5.3 Publication Years of the Papers Under Review

Figure 4 below shows the analysis of the publication years of the papers under review. The
study was based on twenty-five (25) articles, journals and conference papers. The distribution
of papers is summarized in figure 3 below. The papers were obtained from 2014 to 2023. The
relevant papers included in the study were from 2014 to 2023. Papers before 2014 were
excluded from the study. The year 2014 accounted for one (1), non in 2015, one (1) in 2016
two (2) in 2017, three (3) 2018, one (1) 2019, three (3) in 2020, five (5) in 2021, three (3) in
2022), with 2023 contributing to three (3) papers. It is important to note that of papers were
obtained in the previous 9 years, which shows that the area is heavily researched .

Year of Publication

6
6
5
5
4
3 3 3
3
2
2
1 1 1
1
0 Year of Publication
2023 2022 2021 2020 2016 2018 2017 2019 2014

Year of Publication

12
5.4 Outstanding works

A number of papers proposed outstanding work in their journals and conference papers, some
of the future works have been summarised in table 1 below.

Outstanding Work from some of the Reviewed Papers Citations

Despite the promising results, AI techniques for detection and (Sinagra et al. 2020)
identification of colorectal lesions, need to be furtherly
investigated in the near future. In particular, since most of results
come from trials performed in highly specialized centers,
representing a limitation for the generalizability of results, they
must be also confirmed in clinical practice. Finally, the
integration of AI in a human-base medicine setting has to be
taken into consideration: AI is not conceived, nor now, not ever,
to substitute the endoscopist, on the contrary, it seems to be an
extremely helpful tool to be used from the endoscopist himself
that, given his ability and skills, is the only one able to process
and interpret all the AI information to make decisions on the
patient management
A thorough review of the potential role of the gut and locally (Zhou and Sun 2022)
resident bacterial microbiota may have a beneficial impact on
future cancer therapeutics.

Although the results from many previous studies appear to be (Wang and Dong 2020).
promising, supporting evidence of AI systems applied in
colonoscopy is still lacking as most studies were designed
retrospectively. Due to the retrospective nature of most studies
and the potential selection bias involved, further prospective
double-blinded clinical trials are required to confirm the role of
AI-assisted colonoscopy in clinical practice. We suggest the
following for further research: (1) A prospective evaluation with
real-time use of AI is required; (2) In order for the proposed
method to have practical value in clinical trials, further testing

13
with a large number of pathologically proved data sets is very
important to verify the effectiveness and stability of the proposed
classification method; (3) A study in an international,
multicenter setting should be conducted to ensure the
reproducibility and stability of the results; and (4) The efficacy
of AI should be evaluated in all types of colorectal lesions. Other
important types of lesions such as sessile serrated lesions,
ulcerative colitis, or colitis-associated cancer should be also
investigated as targets of an AI system. In addition, the
establishment of a clinical AI system requires the use of a large
amount of clinical data from patients. Compared with research
in other directions, the application of medical data also involves
protection of patient privacy and ethical issues. Once the
information is leaked, it may cause unpredictable consequences.
Therefore, the safe management of medical data should also be
a key issue. When these problems are appropriately addressed,
AI can be used clinically for colorectal diseases
Testing and improving methods to achieve better performing (Tufail et al. 2021)
DL models for cancer diagnosis, prognosis, and prediction
tasks.

Future efforts in the field should be focused in (1) create (Marcos-Zambrano et al.
standards (incl data pre-processing) for the development and 2021)
deployment of ML techniques with an easy, transparent, and
trustable interpretability for nonexperts taking in account the
peculiarities of microbiome data; (2) increase the number and
quality of human microbiome studies; (3) create efficient data
structures and ML repositories following Findable, Accessible,
Interoperable and Reusable (FAIR) principles and (4) build
bridges between different disciplines, microbiology, biology,
statistics, bioinformatics, engineering and others to increase
interdisciplinary for innovative solutions.

14
6.0 Limitation of the Study

In order to have a rich systematic review, the minimum target number of research papers was 45.
Unfortunately, most good journal papers from good publication houses required payments. Due to
limited resources, only 25 papers were reviewed.

7.0 Conclusion

The research study was based on twenty-five (25) articles, journals and conference papers. In
this study we looked at frequently used artificial intelligence algorithm such as Convolutional
neural networks (CNN), Computer aided detection and diagnosis (CAD), Decision tree
learning (DT), convolutional neural network, Deep neural network (DNN), XGBoost, J48
algorithm, K-nearest neighbours (KNN), support vector machines (SVM), LASSO algorithm,
Logistic Regression (LR), Naive Bayes (NB), Random Forest (RF), Shapley Additive
Explanations (SHAP), SparCC algorithm. The most frequently used artificial intelligence
algorithm in the detection of colorectal cancer was Deep neural network (DNN) at 18%,
because it enables better efficiency in utilizing parameters and learning the relationship
between input and output.

We also looked at the most frequently used dataset such as Operational taxonomic units
(OTUs), Tongue coating microbiome, Colonoscopy video images, Endoscopic imaging, Omics
data, Colorectal polyps, Color imaging, Autofluorescence imaging, Pathological whole-slide
image (WSI), Histopathology image, and Microscopy images. The most frequently used
dataset was Operational taxonomic units (OTUs) at 29%, this is because it is easy to collect
and also due to the absence of traditional biological classification systems, OTUs are used as
pragmatic substituted terms for microbial individuals at different taxonomic levels. Relevant
papers included in the study were from 2014 to 2023. The papers reviewed before 2014 were
excluded in order to concentrate on the current used artificial intelligence and datasets in the
detection of colorectal cancer.

In Future we plan to review papers from 2000 to date, in order to have a broader view on how
artificial intelligence has contributed to early detection of colorectal cancer in patients and how
it has helped to reduce the mortality rate.

15
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