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Molecular Insights and Therapeutic Advances in Hematological Disorders
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Molecular Insights and Therapeutic Advances in Hematological Disorders

A special issue of Current Issues in Molecular Biology (ISSN 1467-3045). This special issue belongs to the section "Molecular Medicine".

Deadline for manuscript submissions: 31 August 2025 | Viewed by 5786

Special Issue Editor

Dr. Eleni Gavriilaki

E-Mail Website
Guest Editor
Second Propedeutic Department of Internal Medicine, Hippocration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece
Interests: hematologic malignancies; thrombosis; complement; cellular therapy; lymphoma; myeloma; COVID-19
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, many advances have been made in the understanding of the pathophysiology behind various hematological disorders. A better understanding of the molecular biology of both benign, such as hemoglobinopathies and congenital bleeding disorders, and malignant hematological diseases has led to the development of targeted therapeutics. For example, since the discovery of the Philadelphia chromosome in patients with chronic myelogenous leukemia and the development and approval of Imatinib, a tyrosine kinase inhibitor (TKI), the management of this clinical entity has been revolutionized. Moreover, the involvement of the immune system has been recognized in the pathogenesis of many hematological diseases. Specifically, complement system activation has been described as pathogenic in various disorders, such as paroxysmal nocturnal hemoglobinuria (PNH). Immune dysregulation is also prevalent in hematological malignancies, while immune therapeutics, including chimeric antigen receptor-T (CAR-T) cells and bispecific antibodies, constitute nowadays a standard of care for patients with refractory/relapsed B-cell lymphoproliferative neoplasms and multiple myeloma. The interaction between coagulation, immunity, and vascular endothelium is an emerging issue, concerning not only hematological disorders but also the complications of hematopoietic stem cell transplantation and novel immune therapeutics. This Special Issue aims to publish cutting-edge communication, research, and review articles concerning the pathophysiology, molecular biology, and novel therapeutics about, but not limited to, the following clinical entities: acute leukemia; myeloproliferative neoplasms; lymphoma; multiple myeloma; hemoglobinopathies; and hemophilia.

Notably, we also want to thank the journal’s Topical Advisory Panel Member, Dr. Nikolaos Kotsiou, for his contribution and support to the concept proposal, collaboration promotion, Special Issue operation, and development of this Special Issue.

Dr. Eleni Gavriilaki
Guest Editor

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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. Current Issues in Molecular Biology 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 2200 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

  • acute leukemia
  • myeloproliferative neoplasms
  • lymphoma
  • multiple myeloma
  • hemoglobinopathies
  • hemophilia

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Published Papers (6 papers)

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Editorial

Jump to: Research, Review

3 pages, 174 KiB  
Editorial
Common Genetic Variants in Rare Disorders: Hematology and Beyond
by Paschalis Evangelidis, Maria Gavriilaki, Nikolaos Kotsiou and Eleni Gavriilaki
Curr. Issues Mol. Biol. 2025, 47(1), 23; https://doi.org/10.3390/cimb47010023 - 1 Jan 2025
Viewed by 940
Abstract
Emerging evidence suggests that common genetic variants play a significant role in various rare but life-threatening hematological and non-hematological conditions [...] Full article
(This article belongs to the Special Issue Molecular Insights and Therapeutic Advances in Hematological Disorders)

Research

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20 pages, 2910 KiB  
Article
Genetic and Epigenetic Aberrations of SOX7 in Newly Diagnosed and Relapsed Multiple Myeloma as Well as Related Neoplasms
by Can Küçük, Burcu Akman, Xiaozhou Hu, Tevfik Hatipoğlu, Ahmet Şeyhanlı, Arda Ceylan, Bircan Yılmaz, Osman Can Öztürk, Taner Kemal Erdağ and Güner Hayri Özsan
Curr. Issues Mol. Biol. 2025, 47(4), 244; https://doi.org/10.3390/cimb47040244 - 1 Apr 2025
Viewed by 552
Abstract
Multiple myeloma (MM) is one of the most frequent hematological malignancies. Most MM cases relapse, which is associated with poor prognosis. MM-related tumor suppressor genes are not totally known yet. SOX7 is one of the tumor suppressor candidates located in 8p23.1, a recurrently [...] Read more.
Multiple myeloma (MM) is one of the most frequent hematological malignancies. Most MM cases relapse, which is associated with poor prognosis. MM-related tumor suppressor genes are not totally known yet. SOX7 is one of the tumor suppressor candidates located in 8p23.1, a recurrently deleted region in MM. Here, we evaluated the genetic and epigenetic aberrancies of SOX7 in diagnostic or relapsed MM as well as smoldering MM (SMM) and plasma cell leukemia (PCL). Publicly available datasets were reanalyzed to evaluate SOX7 copy number, promoter methylation, transcript levels in MM or related neoplasms and to evaluate mutation rates in MM cases. qPCR and qRT-PCR with an in-house MM cohort were performed to cross-validate SOX7 copy number and transcript level estimates. SOX7 deletions were frequent in newly diagnosed and relapsed MM cases. SOX7 promoter hypermethylation was observed in MM cell lines, MM cases, and PCL cases. Importantly, SOX7 was transcriptionally silent in MM cell lines and underexpressed in MM and high-risk SMM cases. Integrative analyses of patient-matched diagnostic and relapsed MM tumor tissues revealed moderate positive correlations between SOX7 copy numbers. SOX7 deletion and promoter methylation levels had a tendency to be mutually exclusive. SOX7 promoter methylation levels were significantly higher in relapsed cases compared to the diagnostic ones. SOX7 mutations were rare in MM cases. SOX7 underexpression may be due to genetic and/or epigenetic alterations in newly diagnosed and relapsed MM. These genetic and epigenetic aberrations can serve as diagnostic or prognostic biomarkers for MM and allied neoplasms. Future research will reveal whether SOX7 inactivation has a role in development of these plasma cell neoplasms. Full article
(This article belongs to the Special Issue Molecular Insights and Therapeutic Advances in Hematological Disorders)
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31 pages, 6747 KiB  
Article
Prognostic Value of PSMB5 and Correlations with LC3II and Reactive Oxygen Species Levels in the Bone Marrow Mononuclear Cells of Bortezomib-Resistant Multiple Myeloma Patients
by Eva Plakoula, Georgios Kalampounias, Spyridon Alexis, Evgenia Verigou, Alexandra Kourakli, Kalliopi Zafeiropoulou and Argiris Symeonidis
Curr. Issues Mol. Biol. 2025, 47(1), 32; https://doi.org/10.3390/cimb47010032 - 6 Jan 2025
Viewed by 952
Abstract
Proteasome inhibitors (PIs) constitute the most common type of induction treatment for multiple myeloma. Interactions between the proteasome, autophagy, and reactive oxygen species (ROS) have been shown in the past, thus emphasizing the need for a better understanding of the underlying pathophysiology. For [...] Read more.
Proteasome inhibitors (PIs) constitute the most common type of induction treatment for multiple myeloma. Interactions between the proteasome, autophagy, and reactive oxygen species (ROS) have been shown in the past, thus emphasizing the need for a better understanding of the underlying pathophysiology. For this study, bone marrow mononuclear cells from 110 myeloma patients were collected at different disease stages. PSMB5 and LC3I/II protein levels were determined using Western blot, proteasome proteolytic activity (PPA) with spectrofluorometry, and ROS with flow cytometry. PSMB5 accumulation was found to diminish after PI treatment (p-value = 0.014), and the same pattern was observed in PPA (p-value < 0.001). Conversely, LC3II protein levels were elevated at both remission and relapse compared to baseline levels (p-value = 0.041). Patients with a baseline PSMB5 accumulation lower than 1.06 units had longer disease-free survival compared to those with values above 1.06 units (12.0 ± 6.7 vs. 36 ± 12.1 months; p-value < 0.001). Median ROS levels in plasma cells were significantly higher at relapse compared to both baseline and remission levels (p-value < 0.001), implying poor prognosis. Overall, post-treatment PSMB5 reduction could indicate a shift from proteasomal to autophagic degradation as a main proteostatic mechanism, thus explaining resistance. The elevated oxidative stress in PI-treated patients could possibly serve as an additional compensatory mechanism. Full article
(This article belongs to the Special Issue Molecular Insights and Therapeutic Advances in Hematological Disorders)
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11 pages, 584 KiB  
Article
Association of SLC19A1 Gene Polymorphisms and Its Regulatory miRNAs with Methotrexate Toxicity in Children with Acute Lymphoblastic Leukemia
by Vasiliki Karpa, Kallirhoe Kalinderi, Eleni Gavriilaki, Vasiliki Antari, Emmanuil Hatzipantelis, Theodora Katopodi, Liana Fidani and Athanasios Tragiannidis
Curr. Issues Mol. Biol. 2024, 46(10), 11537-11547; https://doi.org/10.3390/cimb46100685 - 16 Oct 2024
Cited by 1 | Viewed by 1156
Abstract
Methotrexate (MTX) is an anti-folate chemotherapeutic agent that is considered to be a gold standard in Acute Lymphoblastic Leukemia (ALL) therapy. Nevertheless, toxicities induced mainly due to high doses of MTX are still a challenge for clinical practice. MTX pharmacogenetics implicate various genes [...] Read more.
Methotrexate (MTX) is an anti-folate chemotherapeutic agent that is considered to be a gold standard in Acute Lymphoblastic Leukemia (ALL) therapy. Nevertheless, toxicities induced mainly due to high doses of MTX are still a challenge for clinical practice. MTX pharmacogenetics implicate various genes as predictors of MTX toxicity, especially those that participate in MTX intake like solute carrier family 19 member 1 (SLC19A1). The aim of the present study was to evaluate the association between SLC19A1 polymorphisms and its regulatory miRNAs with MTX toxicity in children with ALL. A total of 86 children with ALL were included in this study and were all genotyped for rs2838958, rs1051266 and rs1131596 SLC19A1 polymorphisms as well as the rs56292801 polymorphism of miR-5189. Patients were followed up (48, 72 and 96 h) after treatment with MTX in order to evaluate the presence of MTX-associated adverse events. Our results indicate that there is a statistically significant correlation between the rs1131596 SLC19A1 polymorphism and the development of MTX-induced hepatotoxicity (p = 0.03), but there is no significant association between any of the studied polymorphisms and mucositis or other side effects, such as nausea, emesis, diarrhea, neutropenia, skin rash and infections. In addition, when genotype TT of rs1131596 and genotype AA of rs56292801 are both present in a patient then there is a higher risk of developing severe hepatotoxicity (p = 0.0104). Full article
(This article belongs to the Special Issue Molecular Insights and Therapeutic Advances in Hematological Disorders)
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Review

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15 pages, 290 KiB  
Review
Waldenström Macroglobulinemia: The Role of TP53 Mutations in Disease Progression and Therapeutic Response
by Despoina Dimitria Kampitsi, Paschalis Theotokis, Paschalis Evangelidis, Soultana Meditskou, Maria Eleni Manthou and Iasonas Dermitzakis
Curr. Issues Mol. Biol. 2025, 47(4), 260; https://doi.org/10.3390/cimb47040260 - 8 Apr 2025
Viewed by 468
Abstract
Waldenström Macroglobulinemia (WM) is a rare, indolent B-cell lymphoproliferative disorder characterized by the production of monoclonal IgM paraprotein and infiltration of the bone marrow by lymphoplasmacytic cells. While WM generally exhibits a slow clinical course, it has the potential to progress into more [...] Read more.
Waldenström Macroglobulinemia (WM) is a rare, indolent B-cell lymphoproliferative disorder characterized by the production of monoclonal IgM paraprotein and infiltration of the bone marrow by lymphoplasmacytic cells. While WM generally exhibits a slow clinical course, it has the potential to progress into more aggressive hematologic malignancies, such as diffuse large B-cell lymphoma. The TP53 gene, often referred to as the “guardian of the genome”, plays a pivotal role in maintaining genomic stability, regulating the cell cycle, and orchestrating apoptosis. Mutations in TP53 undermine these essential processes, resulting in dysregulated cellular proliferation, defective apoptotic mechanisms, and genomic instability—hallmarks of cancer development. Although TP53 mutations have been extensively investigated in several hematologic malignancies, including acute myeloid leukemia, myelodysplastic syndromes, and chronic lymphocytic leukemia, their role in WM remains underexplored. Emerging evidence suggests that TP53 mutations may have a significant impact on the disease progression and therapeutic response in WM. This review examines the current knowledge of TP53 mutations in WM, highlighting their implications for prognosis and therapeutic strategies. A deeper understanding of the role of TP53 in WM could provide critical insights for improving disease management and advancing the development of targeted therapies. Full article
(This article belongs to the Special Issue Molecular Insights and Therapeutic Advances in Hematological Disorders)
21 pages, 2013 KiB  
Review
Diagnostic Approaches in Myeloid Sarcoma
by Elzbieta Patkowska, Agnieszka Krzywdzinska, Iwona Solarska, Magdalena Wojtas and Monika Prochorec-Sobieszek
Curr. Issues Mol. Biol. 2025, 47(2), 111; https://doi.org/10.3390/cimb47020111 - 10 Feb 2025
Viewed by 1176
Abstract
Myeloid sarcoma (MS), or extramedullary acute myeloid leukaemia tumour (eAML), is a rare hematopoietic neoplasm. Recognised as a distinct entity within acute myeloid leukaemia (AML), MS presents significant diagnostic challenges due to its rarity, clinical heterogeneity, and variable immunophenotypic and genetic characteristics. The [...] Read more.
Myeloid sarcoma (MS), or extramedullary acute myeloid leukaemia tumour (eAML), is a rare hematopoietic neoplasm. Recognised as a distinct entity within acute myeloid leukaemia (AML), MS presents significant diagnostic challenges due to its rarity, clinical heterogeneity, and variable immunophenotypic and genetic characteristics. The mechanisms by which leukaemic stem cells (LSCs) migrate to form solid tumours in extramedullary (EM) sites remain unclear. MS can occur de novo, precede AML, and manifest alongside AML relapse. It can also develop with myelodysplastic syndromes (MDSs) or myeloproliferative neoplasms (MPNs). MS frequently presents in organs such as the skin, lymph nodes, gastrointestinal (GI) tract, and central nervous system (CNS), often resulting in diverse clinical manifestations. Diagnosis relies on a comprehensive approach, including tissue biopsy, bone marrow (BM) evaluation, and advanced imaging modalities. Accurate diagnosis is crucial for risk stratification and treatment selection. Prognosis is influenced by several factors: MS’s anatomical location, timing of MS diagnosis, genetic profile, and possible treatment. This review emphasises the need for comprehensive diagnostic methods to better define individual MS characteristics and prognosis. It explores the role of novel targeted therapies in improving patient outcomes and further highlights the critical need for future multicentre data collection to optimise diagnostic and therapeutic approaches. Full article
(This article belongs to the Special Issue Molecular Insights and Therapeutic Advances in Hematological Disorders)
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