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Advancements in Hematology: Molecular Biology and Targeted Therapies
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Advancements in Hematology: Molecular Biology and Targeted Therapies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 February 2026 | Viewed by 1868

Special Issue Editors

Dr. Fabio Stagno

E-Mail Website
Guest Editor
Hematology Unit, Department of Human Pathology in Adulthood and Childhood “Gaetano Barresi”, University of Messina, 98125 Messina, Italy
Interests: chronic myeloid leukemia; flow cytometry; multidrug resistance; BCR-ABL1 oncogene
Special Issues, Collections and Topics in MDPI journals
Dr. Stefania Stella

E-Mail Website
Guest Editor
Center of Experimental Onco-Hematology (COES), Department of Clinical and Experimental Medicine, University of Catania, 95124 Catania, Italy
Interests: oncology; hematology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The recent advancements in hematology, particularly in the areas of molecular biology and targeted therapies, have significantly transformed the landscape of diagnosis and treatment for several hematological disorders, including leukemia, lymphoma, anemia, and other blood malignancies. 

Key developments in fields like molecular biology (genetic profiling and sequencing, biomarkers and gene expression, epigenetic modifications), targeted therapies (TKIs, monoclonal antibodies, CAR-T cell therapy, targeted inhibitors of epigenetic regulators, proteasome inhibitors), personalized medicine (risk stratification by genomic testing, detection of minimal residual disease), immunotherapy and checkpoint inhibitors (drugs inhibiting immune checkpoint proteins, bispecific antibodies), advancements in stem cell transplantation, are going to revolutionize the treatment of many hematologic diseases, enabling more precise and effective therapies.

Therefore, as research continues to uncover the genetic and molecular mechanisms of blood disorders, the potential for even more tailored and effective treatments in the future looks promising.

This Special Issue will try to cover and display some of these promising issues.

Dr. Fabio Stagno
Dr. Stefania Stella
Guest Editors

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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 disorders
  • leukemia
  • lymphoma
  • anemia
  • blood malignancies
  • targeted therapies

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Published Papers (3 papers)

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Research

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17 pages, 2997 KB  
Article
Liquid Biopsy as a Means of Assessing Prognosis and Identifying Novel Risk Factors in Multiple Myeloma
by Maiia Soloveva, Maksim Solovev, Igor Yakutik, Bella Biderman, Elena Nikulina, Natalya Risinskaya, Tatiana Obukhova, Maria Gladysheva, Alla Kovrigina, Yulia Chabaeva, Sergei Kulikov, Andrey Sudarikov and Larisa Mendeleeva
Int. J. Mol. Sci. 2025, 26(17), 8505; https://doi.org/10.3390/ijms26178505 - 1 Sep 2025
Viewed by 524
Abstract
Multiple myeloma (MM) is a complex genetic disease characterized by the heterogeneity of tumor cells. We have measured KRAS, NRAS, and BRAF gene mutations in circulating free tumor DNA (ctDNA) from plasma, bone marrow, and plasmacytoma samples as well as their [...] Read more.
Multiple myeloma (MM) is a complex genetic disease characterized by the heterogeneity of tumor cells. We have measured KRAS, NRAS, and BRAF gene mutations in circulating free tumor DNA (ctDNA) from plasma, bone marrow, and plasmacytoma samples as well as their correlation with various clinical and laboratory parameters. The prospective study included 113 MM patients (74 with plasmacytoma and 39 without), treated at the National Medical Research Center for Hematology (Moscow, Russia) from 2009 to 2024. FISH was performed on CD138+ bone marrow cells for 104 patients and array-CGH for two extramedullary plasmacytoma samples. Mutation analysis on CD138+ bone marrow cells was performed for 99 patients, on ctDNA for 80 patients, and, in 26 cases, samples of plasmacytoma were also investigated. Mutations in the KRAS, NRAS, and BRAF genes either in bone marrow, ctDNA, or plasmacytoma samples were found in 50% of patients. In patients with plasmacytoma, mutations in ctDNA were found in 28% of cases versus 0% in cases without plasmacytoma (p = 0.0007). Rare “noncanonical” KRAS and NRAS gene mutations were also more frequent in ctDNA compared to the bone marrow substrate (50% versus 9%, p = 0.01). Liquid biopsy in MM, particularly identification of the KRAS, NRAS, and BRAF gene mutations in ctDNA, is a valuable instrument for prognostication. Researching the intricate mechanisms underlying extramedullary involvement, and identifying novel high-risk factors associated with the disease, is worthwhile. Full article
(This article belongs to the Special Issue Advancements in Hematology: Molecular Biology and Targeted Therapies)
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12 pages, 623 KB  
Article
HAT-PCR Enables Sensitive Quantification of Minimal Residual Disease in Chronic Lymphocytic Leukemia and Myeloma
by Elizabeth Hughes, Sue Latham, Bryone Kuss, Scott Grist, Rachel Hall, Tiffany Khong, Malgorzata Gorniak, Andrew Spencer, Constantine Tam, Stephen Mulligan, Sheree Bailey, Mary Sartor, Dennis Carney, Gavin Cull, David Gottlieb and Alexander Morley
Int. J. Mol. Sci. 2025, 26(16), 7720; https://doi.org/10.3390/ijms26167720 - 10 Aug 2025
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Abstract
The role of HAT-PCR (High A/T or High Annealing Temperature–PCR) in the quantification of minimal residual disease (MRD) was investigated in chronic lymphocytic leukemia (CLL) and myeloma. The IGH gene sequence was determined by next-generation sequencing [...] Read more.
The role of HAT-PCR (High A/T or High Annealing Temperature–PCR) in the quantification of minimal residual disease (MRD) was investigated in chronic lymphocytic leukemia (CLL) and myeloma. The IGH gene sequence was determined by next-generation sequencing (NGS), either by the Lymphotrack kit or by preparing libraries using an in-house two-round PCR protocol which enabled successful sequencing in 37/37 CLL marrow samples and 34/35 myeloma marrow samples. MRD was quantified by HAT-PCR in 125 CLL marrow or blood samples from 36 patients, with 2 results being less than 10−6 and in 63 myeloma marrow samples from 35 patients, with 10 results being less than 10−6. Measurement of MRD in 113 pairs of CLL samples and 51 pairs of myeloma samples showed that HAT-PCR was significantly more sensitive than flow. Compared to marrow MRD, blood MRD was relatively high in CLL but very low or undetectable in myeloma. Flow-positive HAT-PCR negative samples were not seen in myeloma, although the literature review suggested that flow-positive NGS-negative myeloma samples are sometimes observed. The ability of HAT-PCR to quantify down to and below 10−6 and the practical advantages of PCR suggest that HAT-PCR could be used widely for the quantification of MRD in lymphoid malignancy. Full article
(This article belongs to the Special Issue Advancements in Hematology: Molecular Biology and Targeted Therapies)
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Review

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15 pages, 1515 KB  
Review
Histiocytic Sarcoma: A Review and Update
by Yuki Shinohara, Shizuhide Nakayama, Mikiko Aoki and Jun Nishio
Int. J. Mol. Sci. 2025, 26(17), 8554; https://doi.org/10.3390/ijms26178554 - 3 Sep 2025
Viewed by 534
Abstract
Histiocytic sarcoma (HS) is an ultra-rare hematopoietic neoplasm that frequently occurs in extranodal sites of adults. Clinically, HS demonstrates aggressive behavior and can arise de novo or in association with other hematological neoplasms. The median overall survival from the time of diagnosis is [...] Read more.
Histiocytic sarcoma (HS) is an ultra-rare hematopoietic neoplasm that frequently occurs in extranodal sites of adults. Clinically, HS demonstrates aggressive behavior and can arise de novo or in association with other hematological neoplasms. The median overall survival from the time of diagnosis is approximately six months. Histologically, HS is composed of sheets of large, round to oval cells with abundant eosinophilic cytoplasm and can be confused with a variety of benign and malignant conditions. Immunohistochemistry plays a crucial role in the diagnosis of HS, showing expression of CD163, CD68, lysozyme, and PU.1 and negative staining with follicular dendritic cell markers and myeloid cell markers. Recent studies have demonstrated a high rate of PD-L1 expression, suggesting a potential therapeutic target. Several genomic alterations have been identified in HS, including mutations involving the RAS/MAPK and PI3K/AKT/mTOR signaling pathways, CDKN2A mutations/deletions, and TP53 mutations. There is no standard protocol for the management of HS. Surgical resection with or without radiotherapy is the most common first-line treatment for unifocal/localized disease. The systemic treatment options for multifocal/disseminated disease are very limited. This review provides an overview of the current knowledge on the clinicoradiological features, histopathology, pathogenesis, and management of HS. Full article
(This article belongs to the Special Issue Advancements in Hematology: Molecular Biology and Targeted Therapies)
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