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Molecular Advances in Blood Disorders
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Molecular Advances in Blood Disorders

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: 30 October 2025 | Viewed by 4950

Special Issue Editor

Dr. Tadej Pajič

E-Mail Website
Guest Editor
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Šlajmerjeva 4, SI-1000 Ljubljana, Slovenia
Interests: diagnostics of rare genetic disorders; haematological inherited and acquired disorders; molecular genetic testing; prenatal and pre-implantation genetic diagnostics; clinical biochemistry

Special Issue Information

Dear Colleagues,

Recent advancements in molecular biology, (epi)genomics, and therapeutics have revolutionized our understanding of blood disorders, from common, acquired to rare, inherited conditions over a spectrum, ranging from anaemia and disorders of haemostasis and thrombosis to complex malignancies such as myeloproliferative neoplasms. A deeper understanding of blood disease pathophysiology has paved the way for improved diagnostic procedures, prognostic and predictive values, novel targeted therapeutics, and predictions of clinical outcomes.

This Special Issue aims to gather high-quality contributions with a focus on innovative findings, approaches, and advances in molecular profiling; potential or novel diagnostic, prognostic, or predictive biomarkers; molecular monitoring; and targeted therapeutic approaches of acquired or inherited blood disorders.

By compiling these advancements, this Special Issue aspires to serve as a comprehensive resource for researchers, clinicians, medical laboratory scientists, and other healthcare professionals dedicated to advancing knowledge of these disorders. Original research articles and reviews are all highly welcome.

Dr. Tadej Pajič
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.

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Keywords

  • acquired and inherited blood disorders
  • diagnostic, prognostic and predictive biomarkers
  • molecular profiling
  • molecular monitoring
  • targeted therapy
  • leukaemia
  • lymphoma
  • disorders of haemostasis and thrombosis, genetic predisposition
  • germline pathogenic variants
  • molecular mechanisms
  • (epi)genomics

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Published Papers (4 papers)

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21 pages, 1232 KiB  
Article
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing
by Stefania Byrou, Rutger W. W. Brouwer, Marios Tomazou, Stella Tamana, Petros Kountouris, Carsten W. Lederer, Miranda Petrou, Zeliha Ozgur, Xander den Dekker, Zakia Azmani, Soteroula Christou, Christiana Makariou, Marina Kleanthous, Wilfred F. J. van IJcken and Thessalia Papasavva
Int. J. Mol. Sci. 2025, 26(2), 570; https://doi.org/10.3390/ijms26020570 - 10 Jan 2025
Viewed by 1058
Abstract
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study [...] Read more.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma. The assay determines paternal inheritance by analyzing highly heterozygous single-nucleotide variants (SNVs) in the β-globin gene cluster. To identify highly heterozygous SNVs in the population, 96 randomly selected samples were processed using Illumina DNA-prep NGS chemistry. A custom, high-density NGS genotyping panel, named HAPLONID, was designed with 169 SNVs, including 15 common pathogenic ones. The AmpliSeq for Illumina assay was then applied to cfDNA to evaluate the panel’s efficiency in performing NIPT for β-thalassaemia. Analysis revealed 219 highly polymorphic SNVs, and the sequencing of 17 families confirmed successful paternal allele determination. The NIPH assay demonstrated 100% success in diagnostic interpretation. This study achieved the advancement of an integrated NGS-NIPT assay for β-thalassaemia, bringing it one step closer to being a diagnostic assay and thereby enabling a reduction in the number of risky invasive prenatal sampling procedures in Cyprus and elsewhere. Full article
(This article belongs to the Special Issue Molecular Advances in Blood Disorders)
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15 pages, 760 KiB  
Article
Male Sex, B Symptoms, Bone Marrow Involvement, and Genetic Alterations as Predictive Factors in Diffuse Large B-Cell Lymphoma
by Matej Panjan, Vita Šetrajčič Dragoš, Gorana Gašljević, Srdjan Novaković and Barbara Jezeršek Novaković
Int. J. Mol. Sci. 2025, 26(11), 5087; https://doi.org/10.3390/ijms26115087 - 26 May 2025
Viewed by 2482
Abstract
Approximately 40% of patients with diffuse large B-cell lymphoma (DLBCL) are not cured with first-line chemoimmunotherapy, resulting in poor prognosis. Schmitz et al. classified DLBCL into four prognostic genetic groups using whole-exome sequencing. We applied a simplified approach using a targeted next-generation sequencing [...] Read more.
Approximately 40% of patients with diffuse large B-cell lymphoma (DLBCL) are not cured with first-line chemoimmunotherapy, resulting in poor prognosis. Schmitz et al. classified DLBCL into four prognostic genetic groups using whole-exome sequencing. We applied a simplified approach using a targeted next-generation sequencing assay (Archer FusionPlex Lymphoma Assay) to analyze samples from 105 patients—53 with a progression-free survival (PFS) < 2 years (the “Relapse group”) and 52 with a PFS > 5 years (the “Remission group”) following first-line systemic treatment. Patients were classified according to Schmitz et al. into the following categories: “MCD” (MYD88L265P and CD79B alteration), “N1” (NOTCH1 alteration), “BN2” (NOTCH2 alteration and BCL6 translocation), and “EZB” (EZH2 alteration and BCL2 translocation). The predictive value of this simplified genetic classification and of relevant clinical features were evaluated. The “Relapse group” included more patients classified as MCD and N1, while fewer were classified as EZB and BN2. Also, cell-of-origin (COO) characteristics and the size of N1 aligned with the classification of Schmitz et al. However, the limited sample size precludes definitive conclusions about the predictive value of our simplified approach. Additionally, male sex, B symptoms, and bone marrow involvement were associated with relapse. Therefore, these clinical features may be useful in predicting outcomes until an effective molecular classification is widely adopted. Full article
(This article belongs to the Special Issue Molecular Advances in Blood Disorders)
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21 pages, 1475 KiB  
Review
Molecular Features Accompanying Richter’s Transformation in Patients with Chronic Lymphocytic Leukemia
by Xiaole Wang and Jingyu Chen
Int. J. Mol. Sci. 2025, 26(12), 5563; https://doi.org/10.3390/ijms26125563 - 10 Jun 2025
Viewed by 634
Abstract
Chronic Lymphocytic Leukemia (CLL) is a highly heterogeneous tumor. Although targeted therapies such as Bruton’s Tyrosine Kinase (BTK) inhibitors and B-cell lymphoma-2 (Bcl-2) inhibitors have significantly improved patient outcomes in CLL, the disease remains incurable. A critical aspect of CLL progression is its [...] Read more.
Chronic Lymphocytic Leukemia (CLL) is a highly heterogeneous tumor. Although targeted therapies such as Bruton’s Tyrosine Kinase (BTK) inhibitors and B-cell lymphoma-2 (Bcl-2) inhibitors have significantly improved patient outcomes in CLL, the disease remains incurable. A critical aspect of CLL progression is its transformation from an indolent tumor to a high-grade malignancy, a process known as Richter’s Transformation (RT) or Richter Syndrome. Treatment options for RT are very limited, and patient prognosis is often poor. The molecular mechanisms driving RT are not yet fully elucidated. This review aims to summarize recent advances in research aimed at uncovering the mechanisms underlying RT in CLL. By integrating findings from genetics, signaling pathways, epigenetics, and the tumor microenvironment, this review seeks to provide insights that could guide further basic research into RT and inform the development of novel therapeutic strategies to improve patient outcomes. Full article
(This article belongs to the Special Issue Molecular Advances in Blood Disorders)
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12 pages, 1002 KiB  
Article
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia
by Gianluca Dell’Orso, Tommaso Passarella, Serena Cappato, Enrico Cappelli, Stefano Regis, Massimo Maffei, Matilde Balbi, Silvia Ravera, Daniela Di Martino, Silvia Viaggi, Sabrina Davì, Fabio Corsolini, Maria Carla Giarratana, Luca Arcuri, Eugenia Mariani, Riccardo Morini, Erika Massaccesi, Daniela Guardo, Michaela Calvillo, Elena Palmisani, Domenico Coviello, Francesca Fioredda, Carlo Dufour, Renata Bocciardi and Maurizio Mianoadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2025, 26(15), 7330; https://doi.org/10.3390/ijms26157330 - 29 Jul 2025
Abstract
ANKRD26-related thrombocytopenia (ANKRD26-RT) is characterized by lifelong mild to moderate thrombocytopenia. Patients suffer from an increased susceptibility to acute or chronic myeloid leukemia, myelodysplastic syndrome, or chronic lymphocytic leukemia. We described here a patient with inherited thrombocytopenia initially misdiagnosed as immune thrombocytopenic purpura. [...] Read more.
ANKRD26-related thrombocytopenia (ANKRD26-RT) is characterized by lifelong mild to moderate thrombocytopenia. Patients suffer from an increased susceptibility to acute or chronic myeloid leukemia, myelodysplastic syndrome, or chronic lymphocytic leukemia. We described here a patient with inherited thrombocytopenia initially misdiagnosed as immune thrombocytopenic purpura. A chromosomal deletion involving the ANKRD26 gene was identified. Gene and protein expression analyses suggest an alternative pathogenic mechanism of altered megakaryopoiesis: the synthesis of a chimeric protein with aberrant expression due to the unregulated action of a promoter from a gene located upstream of ANKRD26. This study highlights the importance of advanced genetic testing and functional analysis of patients’ primary cells in the case of the detection of previously unrecognized structural variants in order to understand pathogenic mechanisms. These investigations provided a definitive diagnosis for the patient and facilitated the development of a tailored clinical management strategy, especially concerning the potential for myeloid transformation. Full article
(This article belongs to the Special Issue Molecular Advances in Blood Disorders)
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