Umeå University's logo

umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Clinical investigation and application of Artificial Intelligence in diagnosis and prognosis of squamous cell carcinoma of the head and neck
Umeå University, Faculty of Medicine, Department of Medical Biosciences. (Professor Karin Nylander)ORCID iD: 0000-0003-2166-6242
2023 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Background: In Sweden around 1400 people are affected by head and neck cancer each year, and around 400 of these tumours are located in the mobile tongue (SCCOT). A major problem with these tumours is the high degree of relapse. In order to broaden our understanding of the group of squamous cell carcinoma of the head and neck (SCCHN) tumours we evaluated and compared the outcomes of panendoscopy with biopsy, ultrasonography with fine needle aspiration cytology (US-FNAC), and preoperative positron emission tomography/computed tomography (PET/CT) data from the same patients. As patients with SCCHN frequently have distant metastasis and locoregional recurrences, machine learning (ML) techniques were used to create classification models that accurately predict the likelihood of an early recurrence.

Materials and methods: From patients suspected of having head and neck cancer between 2014–2016 results from PET/CT, panendoscopy with biopsy and US-FNAC were compared. Clinical, genomic, transcriptomic, and proteomic markers identifying recurrence risk were investigated. In blood samples taken from healthy individuals, data from proteins relevant to inflammation and/or tumor processes were evaluated. The SHapley Additive Explanations (SHAP) approach was used to determine the best ML algorithm for feature selection. AdaBoost, Artificial neural networks (ANNs), Decision Tree (DT), eXtreme Gradient Boosting (XGBoost), and Support Vector Machine (SVM) were used to create prediction models. Clinical data from patients were analyzed using statistical and ML techniques.

Results: The concordance between results from PET/CT and panendoscopy with biopsy was 91.3%, and somewhat lower, 89.1%, for PET/CT and US-FNAC. The top contributors to classification with the ML approach were five mRNAs (PLAUR, DKK1, AXIN2, ANG, VEGFA), and 10 proteins (RAD50, 4E-BP1, MYH11, MAP2K1, BECN1, NF2, RAB25, ERRFI1, KDR, SERPINE1), using the extreme gradient boosting (XGBoost) method. The SHAP approach was used for feature selection. Using data from analysis of proteins in blood and interpretable ML showed that the Support Vector Machine (SVM) had the best performance with a balanced accuracy of 0.863, and a ROC-AUC of 0.924. The top three contributors to the SVM prediction model's performance were IL10, TNF Receptor Associated Factor 2 (TRAF2), and Kallikrein Related Peptidase 12 (KLK12). Recurrence was correlated with diabetes (p = 0.003), radiographic neck metastasis (p = 0.010), and T stage (p = 0.0012). A ML model got an accuracy rate of 71.2%. In the SCCOT group, diabetics predominated over non-diabetics, and also had lower recurrence rates and better survival (p = 0.012).

Conclusion: Results show that the combination PET/CT is useful in diagnosis of SCCHN. It further emphasizes the use of ML to identify transcriptomic and proteomic factors that are significant in predicting risk of recurrence in patients with SCCHN. It provides a methodical strategy for early diagnosis of SCCOT before onset of clinical symptoms using multidimensional plasma protein profiling and interpretable ML. A model for predicting recurrence of SCCOT is provided by ML utilizing clinical data. As SCCOT patients with co-existing diabetes showed a better prognosis than non-diabetics, results suggest that individuals with SCCOT, regardless of diabetes status, may benefit from therapeutic management of glucose levels.

Place, publisher, year, edition, pages
Umeå: Umeå Universitet , 2023. , p. 47
Series
Umeå University medical dissertations, ISSN 0346-6612 ; 2227
Keywords [en]
SCCHN, SCCOT, Recurrence, ML, PET/CT, mRNA, transcriptomic, proteomic, Diabetes, AI
National Category
Cancer and Oncology
Research subject
Oto-Rhino-Laryngology
Identifiers
URN: urn:nbn:se:umu:diva-208272ISBN: 9789180700146 (print)ISBN: 9789180700153 (electronic)OAI: oai:DiVA.org:umu-208272DiVA, id: diva2:1757115
Public defence
2023-06-15, Betula, Byggnad 6M, Umeå universitet, Umeå, 09:00 (English)
Opponent
Supervisors
Funder
Swedish Cancer Society, 20 0754 PjF 01HAvailable from: 2023-05-25 Created: 2023-05-15 Last updated: 2023-05-16Bibliographically approved
List of papers
1. Comparison of Preoperative Positron Emission Tomography/Computed Tomography with Panscopy and Ultrasound in Patients with Head and Neck Cancer
Open this publication in new window or tab >>Comparison of Preoperative Positron Emission Tomography/Computed Tomography with Panscopy and Ultrasound in Patients with Head and Neck Cancer
Show others...
2020 (English)In: Oncology, ISSN 0030-2414, E-ISSN 1423-0232, Vol. 98, no 12, p. 889-892Article in journal (Refereed) Published
Abstract [en]

Introduction: To compare data from preoperative positron emission tomography/computed tomography (PET/CT) with results of panscopy with biopsy and ultrasound with fine needle aspiration cytology (US-FNAC) on the same patients.

Methods: In this retrospective (2014-2016) study, we compared PET/CT results with the results from panscopy with biopsy and US-FNAC in patients suspected of head and neck malignancy treated at the University Hospital in Umea, Sweden.

Results: A 91.3% concordance was seen between results from PET/CT and panscopy with biopsy, whereas between PET/CT and US-FNAC the concordance was 89.1%.

Conclusions: The present data show the usefulness of PET/CT in the diagnosis of head and neck malignancies.

Place, publisher, year, edition, pages
S. Karger, 2020
Keywords
Positron emission tomography, computed tomography, Panscopy, Head and neck tumor, Ultrasound
National Category
Cancer and Oncology Radiology, Nuclear Medicine and Medical Imaging Medical Image Processing
Identifiers
urn:nbn:se:umu:diva-178040 (URN)10.1159/000509188 (DOI)000595191600009 ()32882692 (PubMedID)2-s2.0-85091043545 (Scopus ID)
Funder
Swedish Cancer Society, 18 05 42
Available from: 2020-12-30 Created: 2020-12-30 Last updated: 2023-05-15Bibliographically approved
2. Reiterative modeling of combined transcriptomic and proteomic features refines and improves the prediction of early recurrence in squamous cell carcinoma of head and neck
Open this publication in new window or tab >>Reiterative modeling of combined transcriptomic and proteomic features refines and improves the prediction of early recurrence in squamous cell carcinoma of head and neck
Show others...
2022 (English)In: Computers in Biology and Medicine, ISSN 0010-4825, E-ISSN 1879-0534, Vol. 149, article id 105991Article in journal (Refereed) Published
Abstract [en]

Background: Patients with squamous cell carcinoma of the head and neck (SCCHN) have a high-risk of recurrence. We aimed to develop machine learning methods to identify transcriptomic and proteomic features that provide accurate classification models for predicting risk of early recurrence in SCCHN patients.

Methods: Clinical, genomic, transcriptomic and proteomic features distinguishing recurrence risk were examined in SCCHN patients from The Cancer Genome Atlas (TCGA). Recurrence within one year after treatment was classified as high-risk and no recurrence as low-risk.

Results: No significant differences in individual clinicopathological characteristics, mutation profiles or mRNA expression patterns were seen between the groups using conventional statistical analysis. Using the machine learning algorithm, extreme gradient boosting (XGBoost), ten proteins (RAD50, 4E-BP1, MYH11, MAP2K1, BECN1, NF2, RAB25, ERRFI1, KDR, SERPINE1) and five mRNAs (PLAUR, DKK1, AXIN2, ANG and VEGFA) made the greatest contribution to classification. These features were used to build improved models in XGBoost, achieving the best discrimination performance when combining transcriptomic and proteomic data, providing an accuracy of 0.939 and an Area Under the ROC Curve (AUC) of 0.951.

Conclusions: This study highlights machine learning to identify transcriptomic and proteomic factors that play important roles in predicting risk of recurrence in patients with SCCHN and to develop such models by iterative cycles to enhance their accuracy, thereby aiding the introduction of personalized treatment regimens.

Place, publisher, year, edition, pages
Elsevier, 2022
Keywords
Early recurrence, Machine learning, Multi-omics, SCCHN, XGBoost
National Category
Cell and Molecular Biology
Identifiers
urn:nbn:se:umu:diva-203250 (URN)10.1016/j.compbiomed.2022.105991 (DOI)000864701300006 ()36007290 (PubMedID)2-s2.0-85136150488 (Scopus ID)
Funder
Swedish Cancer Society, 20 0754 PjF 01HUmeå UniversityRegion Västerbotten
Available from: 2023-01-17 Created: 2023-01-17 Last updated: 2023-05-15Bibliographically approved
3. Early detection of squamous cell carcinoma of the oral tongue using multidimensional plasma protein analysis and interpretable machine learning
Open this publication in new window or tab >>Early detection of squamous cell carcinoma of the oral tongue using multidimensional plasma protein analysis and interpretable machine learning
Show others...
2023 (English)In: Journal of Oral Pathology & Medicine, ISSN 0904-2512, E-ISSN 1600-0714, Vol. 52, no 7, p. 637-643Article in journal (Refereed) Published
Abstract [en]

Background: Interpretable machine learning (ML) for early detection of cancer has the potential to improve risk assessment and early intervention.

Methods: Data from 261 proteins related to inflammation and/or tumor processes in 123 blood samples collected from healthy persons, but of whom a sub-group later developed squamous cell carcinoma of the oral tongue (SCCOT), were analyzed. Samples from people who developed SCCOT within less than 5 years were classified as tumor-to-be and all other samples as tumor-free. The optimal ML algorithm for feature selection was identified and feature importance computed by the SHapley Additive exPlanations (SHAP) method. Five popular ML algorithms (AdaBoost, Artificial neural networks [ANNs], Decision Tree [DT], eXtreme Gradient Boosting [XGBoost], and Support Vector Machine [SVM]) were applied to establish prediction models, and decisions of the optimal models were interpreted by SHAP.

Results: Using the 22 selected features, the SVM prediction model showed the best performance (sensitivity = 0.867, specificity = 0.859, balanced accuracy = 0.863, area under the receiver operating characteristic curve [ROC-AUC] = 0.924). SHAP analysis revealed that the 22 features rendered varying person-specific impacts on model decision and the top three contributors to prediction were Interleukin 10 (IL10), TNF Receptor Associated Factor 2 (TRAF2), and Kallikrein Related Peptidase 12 (KLK12).

Conclusion: Using multidimensional plasma protein analysis and interpretable ML, we outline a systematic approach for early detection of SCCOT before the appearance of clinical signs.

Place, publisher, year, edition, pages
John Wiley & Sons, 2023
Keywords
machine learning, interpretable model, SHAP, SCCOT, PLASMA PROTEIN
National Category
Cancer and Oncology
Research subject
Genetics
Identifiers
urn:nbn:se:umu:diva-208270 (URN)10.1111/jop.13461 (DOI)37428440 (PubMedID)2-s2.0-85164698201 (Scopus ID)
Funder
Swedish Cancer Society, 20 0754 PjF 01HRegion VästerbottenUmeå University
Note

Originally included in thesis in manuscript form. 

Available from: 2023-05-15 Created: 2023-05-15 Last updated: 2023-10-12Bibliographically approved
4. Using clinical data,statistics and machine learning to predict recurrence of squamous cell carcinoma of the oral tongue shows that patients with coexisting diabetes have better survival than non-diabetics
Open this publication in new window or tab >>Using clinical data,statistics and machine learning to predict recurrence of squamous cell carcinoma of the oral tongue shows that patients with coexisting diabetes have better survival than non-diabetics
(English)Manuscript (preprint) (Other academic)
Keywords
Squamous cell carcinoma, tongue, recurrence, Random Forest, diabetes
National Category
Cancer and Oncology
Research subject
Pathology
Identifiers
urn:nbn:se:umu:diva-208271 (URN)
Funder
Swedish Cancer Society, 20 0754 PjF 01H
Available from: 2023-05-15 Created: 2023-05-15 Last updated: 2023-05-16

Open Access in DiVA

fulltext(532 kB)138 downloads
File information
File name FULLTEXT04.pdfFile size 532 kBChecksum SHA-512
e488793dae7be97ae1599f364649fcb59515653f43e7833e17c0a6549c459123dc12bf1dd47de5e778739cb8df6c134eb955a1880acbbf2d662df2eb09b0303b
Type fulltextMimetype application/pdf
spikblad(119 kB)87 downloads
File information
File name FULLTEXT02.pdfFile size 119 kBChecksum SHA-512
c278441ea715bc555c5ac5233ea0f9f318ae259ec9be56d588892469f23505acaa146b985aeceeda58035c5f65711a561f504e8c56af1234191c55565d2b98bf
Type spikbladMimetype application/pdf
omslag(1978 kB)0 downloads
File information
File name COVER01.pngFile size 1978 kBChecksum SHA-512
cfdb3b11781f323f56815969cfa21808ab6f885ff56324f9004626260bdb6ae4447eefd423244524ee72afd8f6926714fd3267162e5753c23e3966814d4089fb
Type coverMimetype image/png

Authority records

Salehi, Amir M.

Search in DiVA

By author/editor
Salehi, Amir M.
By organisation
Department of Medical Biosciences
Cancer and Oncology

Search outside of DiVA

GoogleGoogle Scholar
Total: 229 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

isbn
urn-nbn

Altmetric score

isbn
urn-nbn
Total: 985 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf