. 2021 Oct; 3(1):13-20.
doi: 10.2991/chi.k.201130.001.

Machine Learning Applications in the Diagnosis of Benign and Malignant Hematological Diseases

Ibrahim N Muhsen 1 David Shyr 2 Anthony D Sung 3 Shahrukh K Hashmi 4 
  • PMID: 34595462
  •     51 References


The use of machine learning (ML) and deep learning (DL) methods in hematology includes diagnostic, prognostic, and therapeutic applications. This increase is due to the improved access to ML and DL tools and the expansion of medical data. The utilization of ML remains limited in clinical practice, with some disciplines further along in their adoption, such as radiology and histopathology. In this review, we discuss the current uses of ML in diagnosis in the field of hematology, including image-recognition, laboratory, and genomics-based diagnosis. Additionally, we provide an introduction to the fields of ML and DL, highlighting current trends, limitations, and possible areas of improvement.

Keywords: Hematology; artificial intelligence; machine learning.

Rapid discrimination of multiple myeloma patients by artificial neural networks coupled with mass spectrometry of peripheral blood plasma.
Meritxell Deulofeu, Lenka Kolářová, +8 authors, Petr Vaňhara.
Sci Rep, 2019 May 30; 9(1). PMID: 31138828    Free PMC article.
Machine learning-based classification of diffuse large B-cell lymphoma patients by eight gene expression profiles.
Shuangtao Zhao, Xiaoli Dong, +2 authors, Rong Xiang.
Cancer Med, 2016 Feb 13; 5(5). PMID: 26869285    Free PMC article.
Artificial Intelligence Approaches in Hematopoietic Cell Transplantation: A Review of the Current Status and Future Directions
Ibrahim N. Muhsen, Tusneem ElHassan, Shahrukh K Hashmi.
Turk J Haematol, 2018 Jun 09; 35(3). PMID: 29880463    Free PMC article.
Scalable Prediction of Acute Myeloid Leukemia Using High-Dimensional Machine Learning and Blood Transcriptomics.
Stefanie Warnat-Herresthal, Konstantinos Perrakis, +11 authors, Joachim L Schultze.
iScience, 2020 Jan 10; 23(1). PMID: 31918046    Free PMC article.
Classification of acute lymphoblastic leukemia using deep learning.
Amjad Rehman, Naveed Abbas, +3 authors, Hoshang Kolivand.
Microsc Res Tech, 2018 Oct 24; 81(11). PMID: 30351463
Prediction of Allogeneic Hematopoietic Stem-Cell Transplantation Mortality 100 Days After Transplantation Using a Machine Learning Algorithm: A European Group for Blood and Marrow Transplantation Acute Leukemia Working Party Retrospective Data Mining Study.
Roni Shouval, Myriam Labopin, +17 authors, Mohamad Mohty.
J Clin Oncol, 2015 Aug 05; 33(28). PMID: 26240227
Prediction of absolute risk of acute graft-versus-host disease following hematopoietic cell transplantation.
Catherine Lee, Sebastien Haneuse, +7 authors, Reza Abdi.
PLoS One, 2018 Jan 19; 13(1). PMID: 29346409    Free PMC article.
The meaning and use of the area under a receiver operating characteristic (ROC) curve.
J A Hanley, B J McNeil.
Radiology, 1982 Apr 01; 143(1). PMID: 7063747
Highly Cited.
High-performance medicine: the convergence of human and artificial intelligence.
Eric J Topol.
Nat Med, 2019 Jan 09; 25(1). PMID: 30617339
Highly Cited. Review.
Dissecting racial bias in an algorithm used to manage the health of populations.
Ziad Obermeyer, Brian Powers, Christine Vogeli, Sendhil Mullainathan.
Science, 2019 Oct 28; 366(6464). PMID: 31649194
Highly Cited.
Machine learning applications in the diagnosis of leukemia: Current trends and future directions.
Haneen T Salah, Ibrahim N Muhsen, +2 authors, Shahrukh K Hashmi.
Int J Lab Hematol, 2019 Sep 10; 41(6). PMID: 31498973
Identification of high-risk amino-acid substitutions in hematopoietic cell transplantation: a challenging task.
S R Marino, S M Lee, +9 authors, A Artz.
Bone Marrow Transplant, 2016 May 24; 51(10). PMID: 27214075    Free PMC article.
A primer on deep learning in genomics.
James Zou, Mikael Huss, +3 authors, Amalio Telenti.
Nat Genet, 2018 Nov 28; 51(1). PMID: 30478442
Highly Cited. Review.
Artificial Intelligence and Digital Pathology: Challenges and Opportunities.
Hamid Reza Tizhoosh, Liron Pantanowitz.
J Pathol Inform, 2019 Jan 05; 9. PMID: 30607305    Free PMC article.
Highly Cited. Review.
Multiparameter interpretative reporting in diagnostic laboratory hematology.
L W Diamond, V G Mishka, A H Seal, D T Nguyen.
Int J Biomed Comput, 1994 Nov 01; 37(3). PMID: 7705904
Predicting Complete Remission of Acute Myeloid Leukemia: Machine Learning Applied to Gene Expression.
Ophir Gal, Noam Auslander, Yu Fan, Daoud Meerzaman.
Cancer Inform, 2019 Mar 27; 18. PMID: 30911218    Free PMC article.
Users' guides to the medical literature. III. How to use an article about a diagnostic test. A. Are the results of the study valid? Evidence-Based Medicine Working Group.
R Jaeschke, G Guyatt, D L Sackett.
JAMA, 1994 Feb 02; 271(5). PMID: 8283589
Highly Cited.
Artificial Intelligence, Big Data, and Cancer.
Hagop Kantarjian, Peter Paul Yu.
JAMA Oncol, 2015 Jul 17; 1(5). PMID: 26181906
Clinically validated machine learning algorithm for detecting residual diseases with multicolor flow cytometry analysis in acute myeloid leukemia and myelodysplastic syndrome.
Bor-Sheng Ko, Yu-Fen Wang, +16 authors, Jih-Luh Tang.
EBioMedicine, 2018 Oct 27; 37. PMID: 30361063    Free PMC article.
Big Data and Machine Learning in Health Care.
Andrew L Beam, Isaac S Kohane.
JAMA, 2018 Mar 14; 319(13). PMID: 29532063
Highly Cited.
Deep learning.
Yann LeCun, Yoshua Bengio, Geoffrey Hinton.
Nature, 2015 May 29; 521(7553). PMID: 26017442
Highly Cited. Review.
Automated Diagnosis of Lymphoma with Digital Pathology Images Using Deep Learning.
Hanadi El Achi, Tatiana Belousova, +6 authors, Andy N D Nguyen.
Ann Clin Lab Sci, 2019 Apr 28; 49(2). PMID: 31028058
Peering Into the Black Box of Artificial Intelligence: Evaluation Metrics of Machine Learning Methods.
Guy S Handelman, Hong Kuan Kok, +5 authors, Hamed Asadi.
AJR Am J Roentgenol, 2018 Oct 18; 212(1). PMID: 30332290
Challenges to the Reproducibility of Machine Learning Models in Health Care.
Andrew L Beam, Arjun K Manrai, Marzyeh Ghassemi.
JAMA, 2020 Jan 07; 323(4). PMID: 31904799    Free PMC article.
Acute Lymphoblastic Leukemia Detection and Classification of Its Subtypes Using Pretrained Deep Convolutional Neural Networks.
Sarmad Shafique, Samabia Tehsin.
Technol Cancer Res Treat, 2018 Sep 29; 17. PMID: 30261827    Free PMC article.
Using Machine Learning to Predict Laboratory Test Results.
Yuan Luo, Peter Szolovits, Anand S Dighe, Jason M Baron.
Am J Clin Pathol, 2016 Jun 23; 145(6). PMID: 27329638
Users' guides to the medical literature. III. How to use an article about a diagnostic test. B. What are the results and will they help me in caring for my patients? The Evidence-Based Medicine Working Group.
R Jaeschke, G H Guyatt, D L Sackett.
JAMA, 1994 Mar 02; 271(9). PMID: 8309035
Highly Cited.
Implementing Machine Learning in Health Care - Addressing Ethical Challenges.
Danton S Char, Nigam H Shah, David Magnus.
N Engl J Med, 2018 Mar 15; 378(11). PMID: 29539284    Free PMC article.
Highly Cited.
Not Just Digital Pathology, Intelligent Digital Pathology.
Balazs Acs, David L Rimm.
JAMA Oncol, 2018 Feb 03; 4(3). PMID: 29392271
Machine learning can identify newly diagnosed patients with CLL at high risk of infection.
Rudi Agius, Christian Brieghel, +17 authors, Carsten U Niemann.
Nat Commun, 2020 Jan 19; 11(1). PMID: 31953409    Free PMC article.
Automatic Recognition of Acute Myelogenous Leukemia in Blood Microscopic Images Using K-means Clustering and Support Vector Machine.
Fatemeh Kazemi, Tooraj Abbasian Najafabadi, Babak Nadjar Araabi.
J Med Signals Sens, 2016 Aug 27; 6(3). PMID: 27563575    Free PMC article.
Implementing Machine Learning in Radiology Practice and Research.
Marc Kohli, Luciano M Prevedello, Ross W Filice, J Raymond Geis.
AJR Am J Roentgenol, 2017 Jan 27; 208(4). PMID: 28125274
Highly Cited. Review.
Detection of anaemia from retinal fundus images via deep learning.
Akinori Mitani, Abigail Huang, +6 authors, Avinash V Varadarajan.
Nat Biomed Eng, 2019 Dec 25; 4(1). PMID: 31873211
Digital imaging in pathology: whole-slide imaging and beyond.
Farzad Ghaznavi, Andrew Evans, Anant Madabhushi, Michael Feldman.
Annu Rev Pathol, 2012 Nov 20; 8. PMID: 23157334
Comparison between an artificial neural network and logistic regression in predicting acute graft-vs-host disease after unrelated donor hematopoietic stem cell transplantation in thalassemia patients.
Giovanni Caocci, Roberto Baccoli, +7 authors, Giorgio La Nasa.
Exp Hematol, 2010 Mar 09; 38(5). PMID: 20206661
Artificial intelligence in hematology.
Gina Zini.
Hematology, 2005 Oct 06; 10(5). PMID: 16203606
Registries and artificial intelligence: investing in the future of hematopoietic cell transplantation.
Ibrahim N Muhsen, Madan Jagasia, Amir Ahmed Toor, Shahrukh K Hashmi.
Bone Marrow Transplant, 2018 Sep 02; 54(3). PMID: 30171225
Evaluation of a Machine Learning-Based Prognostic Model for Unrelated Hematopoietic Cell Transplantation Donor Selection.
Ljubomir Buturovic, Jason Shelton, +10 authors, Stephanie J Lee.
Biol Blood Marrow Transplant, 2018 Feb 08; 24(6). PMID: 29410341    Free PMC article.
An application of machine learning to haematological diagnosis.
Gregor Gunčar, Matjaž Kukar, +4 authors, Marko Notar.
Sci Rep, 2018 Jan 13; 8(1). PMID: 29323142    Free PMC article.
Prediction of Hematopoietic Stem Cell Transplantation Related Mortality- Lessons Learned from the In-Silico Approach: A European Society for Blood and Marrow Transplantation Acute Leukemia Working Party Data Mining Study.
Roni Shouval, Myriam Labopin, +10 authors, Arnon Nagler.
PLoS One, 2016 Mar 05; 11(3). PMID: 26942424    Free PMC article.
Classification of follicular lymphoma: the effect of computer aid on pathologists grading.
Mohammad Faizal Ahmad Fauzi, Michael Pennell, +13 authors, Metin N Gurcan.
BMC Med Inform Decis Mak, 2015 Dec 31; 15. PMID: 26715518    Free PMC article.
How to Read Articles That Use Machine Learning: Users' Guides to the Medical Literature.
Yun Liu, Po-Hsuan Cameron Chen, Jonathan Krause, Lily Peng.
JAMA, 2019 Nov 13; 322(18). PMID: 31714992
Bayesian clustering of flow cytometry data for the diagnosis of B-chronic lymphocytic leukemia.
John Lakoumentas, John Drakos, +2 authors, George C Sakellaropoulos.
J Biomed Inform, 2008 Dec 17; 42(2). PMID: 19084613
Logic Learning Machine and standard supervised methods for Hodgkin's lymphoma prognosis using gene expression data and clinical variables.
Stefano Parodi, Chiara Manneschi, +2 authors, Marco Muselli.
Health Informatics J, 2016 Jun 30; 24(1). PMID: 27354395
Explainable artificial intelligence for breast cancer: A visual case-based reasoning approach.
Jean-Baptiste Lamy, Boomadevi Sekar, +2 authors, Brigitte Séroussi.
Artif Intell Med, 2019 Mar 16; 94. PMID: 30871682
Feature Analysis and Automatic Identification of Leukemic Lineage Blast Cells and Reactive Lymphoid Cells from Peripheral Blood Cell Images.
Laura Bigorra, Anna Merino, Santiago Alférez, José Rodellar.
J Clin Lab Anal, 2016 Jul 19; 31(2). PMID: 27427422    Free PMC article.
Comparison of Machine Learning Methods With Traditional Models for Use of Administrative Claims With Electronic Medical Records to Predict Heart Failure Outcomes.
Rishi J Desai, Shirley V Wang, +2 authors, Sebastian Schneeweiss.
JAMA Netw Open, 2020 Jan 11; 3(1). PMID: 31922560    Free PMC article.
Machine learning algorithms for the detection of spurious white blood cell differentials due to erythrocyte lysis resistance.
Laura Bigorra, Iciar Larriba, Ricardo Gutiérrez-Gallego.
J Clin Pathol, 2019 Apr 18; 72(6). PMID: 30992342
Automated Whole-Body Bone Lesion Detection for Multiple Myeloma on 68Ga-Pentixafor PET/CT Imaging Using Deep Learning Methods.
Lina Xu, Giles Tetteh, +7 authors, Bjoern H Menze.
Contrast Media Mol Imaging, 2018 Mar 14; 2018. PMID: 29531504    Free PMC article.
Digital morphology analyzers in hematology: ICSH review and recommendations.
Alexander Kratz, Szu-Hee Lee, +4 authors, International Council for Standardization in Haematology.
Int J Lab Hematol, 2019 May 03; 41(4). PMID: 31046197
The coming of age of artificial intelligence in medicine.
Vimla L Patel, Edward H Shortliffe, +4 authors, Ameen Abu-Hanna.
Artif Intell Med, 2008 Sep 16; 46(1). PMID: 18790621    Free PMC article.