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Diagnostics
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Hematology: Diagnostic Techniques and Assays
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Hematology: Diagnostic Techniques and Assays

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Laboratory Medicine".

Deadline for manuscript submissions: closed (28 February 2025) | Viewed by 2254

Special Issue Editor

Dr. Chihyun Cho

E-Mail Website
Guest Editor
Department of Laboratory Medicine, College of Medicine, Korea University Ansan Hospital, Ansan, Republic of Korea
Interests: diagnostic hematology and immunology

Special Issue Information

Dear Colleagues,

Hematology is the study of blood, its formation, function, and disorders. It is a vast and complex field that encompasses a wide range of topics, from the basic biology of blood cells to the diagnosis and treatment of blood diseases. In recent years, there have been significant advances in our understanding of hematology, which have led to the development of new diagnostic techniques and assays. These advances have had a profound impact on the care of patients with blood disorders, improving their quality of life and survival.

This Special Issue of Diagnostics will focus on the latest advances in diagnostic techniques and assays in hematology. We will publish original research articles that describe new diagnostic techniques and assays, as well as clinical studies that evaluate the effectiveness of these techniques in the diagnosis and management of patients with blood disorders.

Scope

This Special Issue will cover a wide range of topics related to diagnostic techniques and assays in hematology, including:

  • New methods for the detection and characterization of blood cells;
  • Molecular diagnostics for hematological disorders;
  • Flow cytometry and immunophenotyping;
  • Cytogenetics and molecular cytogenetics;
  • Gene expression profiling and microarrays;
  • Next-generation sequencing;
  • Mass spectrometry;
  • Biomarkers and prognostication;
  • Point-of-care testing;
  • The application of diagnostic techniques to the study of hematopoietic stem cells;
  • The ethical and regulatory considerations of new diagnostic techniques.

Dr. Chihyun Cho
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • diagnostic
  • hematology
  • technique
  • assay
  • blood
  • genetic
  • molecular

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

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12 pages, 1078 KiB  
Article
Diagnostic Implications of NGS-Based Molecular Profiling in Mature B-Cell Lymphomas with Potential Bone Marrow Involvement
by Bernhard Strasser, Sebastian Mustafa, Josef Seier, Erich Wimmer and Josef Tomasits
Diagnostics 2025, 15(6), 727; https://doi.org/10.3390/diagnostics15060727 - 14 Mar 2025
Viewed by 288
Abstract
Background: Methods such as cytogenetics and immunocytology/immunohistology provide essential diagnostic insights but may be limited in ambiguous cases of mature B-cell lymphoma. Next-generation sequencing (NGS) has emerged as a potential tool to improve diagnostics. Methods: We validated the analytical performance of a lymphoid [...] Read more.
Background: Methods such as cytogenetics and immunocytology/immunohistology provide essential diagnostic insights but may be limited in ambiguous cases of mature B-cell lymphoma. Next-generation sequencing (NGS) has emerged as a potential tool to improve diagnostics. Methods: We validated the analytical performance of a lymphoid customized NGS panel. Clinical validation was conducted in 226 patients with suspected mature B-cell lymphoma with potential bone marrow involvement across multiple clinically relevant scenarios. Results: NGS (1) achieved 100% sensitivity and specificity with high reproducibility (r = 0.995), confirming its analytical performance. (2) It reliably detected WHO-classified markers, including BRAF mutations in all hairy cell leukemia cases, MYD88/CXCR4 mutations in lymphoplasmacytic lymphoma, and absence of BRAF mutations in splenic B-cell lymphoma with prominent nucleoli. (3) In lymphoma exclusion diagnostics, NGS identified mutations in previously undiagnosed cases, including a BCORL1 mutation leading to reclassification as marginal zone lymphoma. (4) Among 105 confirmed lymphomas, 65% harbored mutations, with detection rates highest in HCL and LPL (100%) and CLL (62%), while follicular lymphoma showed no detectable mutations. (5) In cases with non-interpretable cytogenetics, NGS detected pathogenic variants in 61% of patients, compensating for inconclusive findings. (6) In cases with limited morphological assessment, NGS identified relevant mutations in 70%, outperforming cytogenetics (30%; p = 0.0256, OR = 5.44). Conclusions: NGS enhances the diagnostic accuracy of mature B-cell lymphomas by complementing traditional methods, refining WHO-classified subtypes, and improving detection in cases with inconclusive cytogenetics or morphology. NGS may reduce the need for unnecessary bone marrow re-punctures by providing additional information in ambiguous cases. Full article
(This article belongs to the Special Issue Hematology: Diagnostic Techniques and Assays)
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12 pages, 1560 KiB  
Article
Diagnostic Performance of Serum Erythropoietin to Discriminate Polycythemia Vera from Secondary Erythrocytosis through Established Subnormal Limits
by Ji Sang Yoon, Hyunhye Kang, Dong Wook Jekarl, Sung-Eun Lee and Eun-Jee Oh
Diagnostics 2024, 14(17), 1902; https://doi.org/10.3390/diagnostics14171902 - 29 Aug 2024
Viewed by 1163
Abstract
Serum erythropoietin (sEPO) is an initial screening tool for distinguishing polycythemia vera (PV) from secondary erythrocytosis (SE), but defining ‘subnormal’ sEPO levels for PV diagnosis remains contentious, complicating its clinical utility. This study compares the diagnostic performance of sEPO across established subnormal limits, [...] Read more.
Serum erythropoietin (sEPO) is an initial screening tool for distinguishing polycythemia vera (PV) from secondary erythrocytosis (SE), but defining ‘subnormal’ sEPO levels for PV diagnosis remains contentious, complicating its clinical utility. This study compares the diagnostic performance of sEPO across established subnormal limits, including reference interval (RI), clinical decision limit (CDL), and functional reference limit. sEPO levels were analyzed in 393 healthy donors (HDs) and 90 patients (41 PV and 49 SE), who underwent bone marrow biopsy and genetic tests due to erythrocytosis. The RI (2.5–97.5 percentile from HDs) of sEPO was 5.3–26.3 IU/L. A CDL of 3.1 IU/L, determined by ROC analysis in erythrocytosis patients, had a sensitivity of 80.5% and specificity of 87.8% for diagnosing PV. A functional reference limit of 7.0 IU/L, estimated based on the relationship between sEPO and hemoglobin, hematocrit, and WBC, increased sensitivity to 97.6% but decreased specificity to 46.7%. Using 5.3 IU/L as a ‘subnormal’ limit identified all three JAK2-negative PV cases, increasing the sensitivity and negative predictive value to 97.6% and 97.0%, respectively. Combining the RI, CDL, and functional reference limit may improve PV diagnostic accuracy. Full article
(This article belongs to the Special Issue Hematology: Diagnostic Techniques and Assays)
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Review

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24 pages, 567 KiB  
Review
Real-World Application of Digital Morphology Analyzers: Practical Issues and Challenges in Clinical Laboratories
by Hanah Kim, Mina Hur, Giuseppe d’Onofrio and Gina Zini
Diagnostics 2025, 15(6), 677; https://doi.org/10.3390/diagnostics15060677 - 10 Mar 2025
Viewed by 413
Abstract
Digital morphology (DM) analyzers have advanced clinical hematology laboratories by enhancing the efficiency and precision of peripheral blood (PB) smear analysis. This review explores the real-world application of DM analyzers with their benefits and challenges by focusing on PB smear analysis and less [...] Read more.
Digital morphology (DM) analyzers have advanced clinical hematology laboratories by enhancing the efficiency and precision of peripheral blood (PB) smear analysis. This review explores the real-world application of DM analyzers with their benefits and challenges by focusing on PB smear analysis and less common analyses, such as bone marrow (BM) aspirates and body fluids (BFs). DM analyzers may automate blood cell classification and assessment, reduce manual effort, and provide consistent results. However, recognizing rare and dysplastic cells remains challenging due to variable algorithmic performances, which affect diagnostic reliability. The quality of blood film as well as staining techniques significantly influence the accuracy of DM analyzers, and poor-quality samples may lead to errors. In spite of reduced inter-observer variability compared with manual counting, an expert’s review is still needed for complex cases with atypical cells. DM analyzers are less effective in BM aspirates and BF examinations because of their higher complexity and inconsistent sample preparation compared with PB smears. This technology relies heavily on artificial intelligence (AI)-based pre-classifications, which require extensive, well-annotated datasets for improved accuracy. The performance variation across platforms in BM aspirates and rare-cell analysis highlights the need for AI algorithm advancements and DM analysis standardization. Future clinical practice integration will likely combine advanced digital platforms with skilled oversight to enhance diagnostic workflow in hematology laboratories. Ongoing research aims to develop robust and validated AI models for broader clinical applications and to overcome the current limitations of DM analyzers. As technology evolves, DM analyzers are set to transform laboratory efficiency and diagnostic precision in hematology. Full article
(This article belongs to the Special Issue Hematology: Diagnostic Techniques and Assays)
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