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Advances in Molecular Pathogenesis, Precision Medicine, and Artificial Intelligence in...
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Advances in Molecular Pathogenesis, Precision Medicine, and Artificial Intelligence in Hematologic Malignancies

A Special Issue of Diseases (ISSN 2079-9721) belonging to the section "Oncology".

Deadline for manuscript submissions: 31 December 2026 | Viewed by 4137

Editor

Dr. Eleftheria Hatzimichael

E-Mail Website
Guest Editor
Department of Hematology, Faculty of Medicine, University of Ioannina, Stavros Niarchos Avenue, 45110 Ioannina, Greece
Interests: acute leukemia; myelodysplastic syndromes; chronic lymphocytic leukemia; lymphomas; multiple myeloma; clinical trials; biomarkers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hematologic malignancies represent a diverse group of cancers affecting blood, bone marrow, and lymphatic systems, characterized by complex molecular landscapes, diverse clinical courses, and evolving therapeutic challenges.

Recent advances in molecular biology and high-throughput technologies have unraveled critical pathways underlying leukemogenesis, lymphomagenesis, and marrow failure syndromes, providing unprecedented opportunities for risk stratification and targeted intervention. Precision medicine, driven by genomic and epigenomic profiling, has already transformed the management of several entities, enabling personalized therapeutic strategies that improve outcomes while minimizing toxicity

Recent decades have witnessed unprecedented advances in our understanding of the molecular underpinnings of these diseases, providing unprecedented opportunities for risk stratification and targeted intervention.

At the same time, artificial intelligence (AI) is emerging as a powerful tool in hematology, complementing traditional approaches by integrating multi-omic data, digital pathology, and real-world clinical information to enhance diagnosis, prognosis, and treatment selection. These advances not only accelerate translational research but also hold the promise of redefining clinical practice in the near future.

This Special Issue, Advances in Molecular Pathogenesis, Precision Medicine, and Artificial Intelligence in Hematologic Malignancies, invites original research articles, comprehensive reviews, and translational studies that explore the interplay between molecular mechanisms and innovative technologies. By bringing together insights from basic, translational, and clinical research, we aim to highlight breakthroughs that will shape the future of personalized hematology and improve patient care.

Dr. Eleftheria Hatzimichael
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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diseases is an international peer-reviewed open access monthly 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 1800 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

  • hematologic malignancies
  • molecular pathogenesis
  • precision medicine
  • personalized treatment
  • artificial intelligence
  • machine learning
  • targeted therapy
  • genomic profiling
  • biomarkers
  • translational research
  • digital pathology

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Published Papers (2 papers)

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Research

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8 pages, 338 KB  
Communication
Frequency of Non-Type I/II CALR Mutations in Patients Undergoing Molecular Diagnostics for Myeloproliferative Neoplasms
by Tatiana Makarik, Elena Nikulina, Svetlana Treglasova, Elena Stepanova, Natalia Chernova, Bella Biderman, Alina Kokhno and Andrey Sudarikov
Diseases 2026, 14(6), 190; https://doi.org/10.3390/diseases14060190 - 28 May 2026
Viewed by 851
Abstract
Background/Objectives: Somatic CALR gene insertions/deletions in exon 9, causing frameshift, are a diagnostic sign of myeloproliferative neoplasms (MPNs). Besides the most common somatic mutations of type I (52 bp deletion) and type II (5 bp insertion), there are rare ones whose significance is [...] Read more.
Background/Objectives: Somatic CALR gene insertions/deletions in exon 9, causing frameshift, are a diagnostic sign of myeloproliferative neoplasms (MPNs). Besides the most common somatic mutations of type I (52 bp deletion) and type II (5 bp insertion), there are rare ones whose significance is not always clear. This study evaluates the frequency of rare mutations and demonstrates a germline rather than somatic nature for some of them. Methods: A retrospective analysis of 8417 blood samples subjected to molecular diagnosis of myeloproliferative neoplasm (MPN) was performed. Cases suspected as germline variants were sequenced, and paired samples (when available) of buccal epithelium were analyzed. Results: We have identified 632 CALR gene mutation-positive cases. Most of the cases were typical insertions/deletions (5 bp/52 bp). Non-type I/II frameshift or nonframeshift mutations were observed in 68 cases (11%). The buccal swab samples obtained from 4 patients confirmed the germline nature of these variants. It is worth noting that the MPN diagnosis for three of these patients was made considering the presence of the JAK2 V617F mutation (two cases) or BCR::ABL1 translocation (one case). In one case, the diagnosis of MPN was reclassified to CML. Conclusions: Non-type I/II CALR mutations, according to our data, could be found in 0.8% of MPN-suspected cases, and may not be associated with the diagnosis. The detection of a non-standard CALR mutation with an allelic frequency close to 50% should raise suspicion of the possibility of a germline CALR variant, and such cases should be investigated further. Full article
(This article belongs to the Special Issue Advances in Molecular Pathogenesis, Precision Medicine, and Artificial Intelligence in Hematologic Malignancies)
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Review

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25 pages, 1916 KB  
Review
Decoding Leukemic Stem Cells in AML: From Identification to Targeted Eradication
by Elisavet Apostolidou, Vasileios Georgoulis, Dimitrios Leonardos, Leonidas Benetatos, Eleni Kapsali and Eleftheria Hatzimichael
Diseases 2026, 14(2), 50; https://doi.org/10.3390/diseases14020050 - 30 Jan 2026
Cited by 4 | Viewed by 2791
Abstract
Acute myeloid leukemia (AML) continues to pose significant therapeutic challenges, with high relapse rates driven largely by leukemic stem cells (LSCs), a rare, therapy-resistant population with self-renewal capacity, niche adaptation, and the ability to re-initiate disease. In this state-of-the-art review, we synthesize recent [...] Read more.
Acute myeloid leukemia (AML) continues to pose significant therapeutic challenges, with high relapse rates driven largely by leukemic stem cells (LSCs), a rare, therapy-resistant population with self-renewal capacity, niche adaptation, and the ability to re-initiate disease. In this state-of-the-art review, we synthesize recent advances in LSC biology, addressing (i) how LSCs differ functionally and phenotypically from normal hematopoietic stem cells (HSCs), (ii) practical approaches for LSC quantification using multiparameter flow cytometry and LSC-enriched marker panels, (iii) the dysregulated signaling, metabolic and epigenetic programs that enable LSC persistence under chemotherapy and contribute to measurable residual disease, and (iv) current therapeutic strategies targeting LSC eradication, including antibody-based therapies, apoptosis and metabolic inhibitors, and emerging epigenetic agents. We also examine the key translational barriers, particularly antigen overlap with normal progenitors, microenvironmental protection, and the need for assay harmonization, while proposing a practical framework for integrating LSC assessment into risk stratification and therapeutic development. Full article
(This article belongs to the Special Issue Advances in Molecular Pathogenesis, Precision Medicine, and Artificial Intelligence in Hematologic Malignancies)
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