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Diagnostics
Special Issues
Diagnosis and Prognosis of Hematological Disease
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Diagnosis and Prognosis of Hematological Disease

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 January 2026 | Viewed by 305

Special Issue Editor

Dr. Sapha Shibeeb

E-Mail Website
Guest Editor
School of Health and Biomedical Sciences, RMIT University, Melbourne, VIC 3000, Australia
Interests: novel modulators of platelet function; role of plalelets in cardiovascular diseases; advances in AI and diagnosis of hematological conditions

Special Issue Information

Dear Colleagues,

This Special Issue offers new insights into the diagnostic process, clinical management, and prognosis of hematological diseases. With advances in precision medicine, significant progress has been made in the diagnosis and management of hematological disorders, including leukemia, lymphoma, and anemia. The integration of molecular diagnostics, such as next-generation sequencing, has enabled more personalized treatment approaches, shifting from traditional chemotherapy to therapies tailored to a patient's genetic profile.

This Special Issue aims to highlight the latest developments in hematological diagnosis and prognosis, ranging from basic hematology to advanced technologies such as sequencing and molecular diagnostics. We invite original research articles and reviews in areas including but not limited to molecular diagnostics, predictive biomarkers, and clinical applications in hematology.

We look forward to receiving your contributions

Dr. Sapha Shibeeb
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

  • hematological diseases
  • leukaemia
  • molecular diagnostics
  • next-generation sequencing (NGS)
  • precision medicine
  • predictive biomarkers
  • AI-assited diagnosis

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

Published Papers (1 paper)

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Research

14 pages, 1392 KiB  
Article
A Five-Gene Signature for the Prediction of Event-Free Survival of Both Pediatric and Adult Acute Myeloid Leukemia
by Dechang Chen, Alvin J. Liu, Li Sheng, Zhenqiu Liu and Irina Elcheva
Diagnostics 2025, 15(11), 1421; https://doi.org/10.3390/diagnostics15111421 - 3 Jun 2025
Viewed by 205
Abstract
Background: While adult and pediatric acute myeloid leukemia (AML) exhibit genetic distinctions, investigating their common gene expression program is critical for understanding the fundamental biological mechanisms that drive diverse cellular responses. However, existing gene signatures, predominantly tailored for overall survival (OS), may not [...] Read more.
Background: While adult and pediatric acute myeloid leukemia (AML) exhibit genetic distinctions, investigating their common gene expression program is critical for understanding the fundamental biological mechanisms that drive diverse cellular responses. However, existing gene signatures, predominantly tailored for overall survival (OS), may not adequately forecast event-free survival (EFS). EFS represents the time patients survive without disease recurrence, progression, or further treatment, a crucial metric for evaluating drug efficacy and assessing the clinical benefits of treatment. Methods: We performed an integrated analysis of adult TCGA and pediatric TARGET expression datasets to pinpoint genes and pathways associated with EFS in both adult and pediatric AML. Additionally, we constructed a predictive model using one dataset and validated it on the other to unveil a novel gene signature. Results: A five-gene signature comprising F2RL3, IL2RA, MYH15, SIX3, and SOBP was identified for EFS for both adult and pediatric AML. The test Area Under the ROC Curves (AUCs) for the 2-year and 5-year cutoffs of adult TCGA data were 0.851 (95% CI (Confidence Interval): 0.778–0.923) and 0.848 (95% CI: 0.729–0.968), respectively. Similarly, the test AUCs for the 2-year and 5-year cutoffs of Pediatric TARGET data were 0.725 (95% CI: 0.640–0.811) and 0.695 (95% CI: 0.59–0.80), respectively. When patients were stratified into three equal-sized prognostic subtypes based on the five-gene test risk scores, the P-values of tertile partitions for TARGET and TCGA data were 2.32e−6 and 5.12e−14, respectively, indicating superior performance compared to cytogenetic risk stratification within the same data (TARGET: P = 0.0019; TCGA: P = 0.0086). Despite being identified for EFS, the five-gene signature successfully stratified patients into distinct OS groups across two additional independent datasets. Conclusions: This five-gene signature demonstrates robust performance in both EFS and OS risk prediction and might be clinically significant. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Hematological Disease)
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