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Hemato
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Hematopathology: Rare Hematological Diseases
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Hematopathology: Rare Hematological Diseases

A special issue of Hemato (ISSN 2673-6357).

Deadline for manuscript submissions: 30 June 2026 | Viewed by 14964

Special Issue Editor

Dr. Pier Paolo Piccaluga

E-Mail Website
Guest Editor
1. Biobank of Research, IRCCS Azienda Ospedaliera-Universitaria di Bologna Policlinico di S. Orsola, 40138 Bologna, Italy
2. Department of Medical and Surgical Sciences, Bologna University School of Medicine, 40126 Bologna, Italy
Interests: leukemia; lymphoma; targeted therapy; molecular diagnostics; high throughput genomics; transcriptomics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The journal Hemato is excited to announce a forthcoming special issue titled "Hematopathology: Rare Hematological Diseases". This issue seeks to delve into the complexities of rare hematological disorders, which, despite their infrequency, pose significant challenges to clinicians and researchers alike. By providing a comprehensive platform for the dissemination of cutting-edge research, this special issue aims to enhance our understanding of these conditions, promote innovative diagnostic and therapeutic strategies, and stimulate collaboration across the global scientific community. 

Rare hematological diseases encompass a diverse range of conditions that often require specialized knowledge for diagnosis and management. This special issue will focus on elucidating the underlying mechanisms, improving diagnostic accuracy, and exploring novel treatment options to better serve patients affected by these disorders. Through a collection of high-quality articles, we aim to address the gaps in current knowledge and inspire ongoing research efforts.

We invite submissions on a broad array of topics related to rare hematological diseases, including but not limited to acute and chronic leukemias, lymphomas, plasma cell disorders, accessory cells derived neoplasms, chronic myeloproliferative neoplasms and myelodysplastic neoplasms, mast cell neoplasms, hyper eosinophilic syndromes:

  • Pathophysiology and Molecular Mechanisms
    • Detailed studies on the genetic, biochemical, and cellular mechanisms driving rare hematological disorders.
    • Exploration of novel molecular pathways and their implications for disease progression and treatment.
  • Diagnostic Techniques
    • Cutting-edge developments in diagnostic technologies, including next-generation sequencing and advanced imaging modalities.
    • Research on biomarkers and their application in improving diagnostic precision and patient stratification.
  • Clinical Management and Treatment
    • Innovative therapeutic approaches, including targeted therapies, immunotherapies, and gene editing techniques.
    • Evaluation of clinical trial outcomes and their impact on standard care practices.
  • Case Studies and Reports
    • In-depth analyses of unique case presentations that provide valuable insights into rare conditions.
    • Discussion of diagnostic dilemmas and successful management strategies.
  • Epidemiology and Genetic Studies
    • Comprehensive studies on the prevalence, risk factors, and genetic predispositions associated with rare hematological diseases.
    • Insights into population genetics and the role of environmental factors.
  • Translational Research
    • Efforts to translate laboratory discoveries into effective clinical interventions.
    • Collaborative research bridging basic science and clinical practice to improve patient outcomes.
  • Immunological Aspects and Bone Marrow Disorders
    • Investigation of immune system interactions in rare hematological conditions.
    • Studies on bone marrow failure syndromes, their pathogenesis, and innovative treatment options.

We eagerly anticipate your contributions to this special issue, which promises to be a significant addition to the field of hematopathology. Your research will play a crucial role in advancing our understanding of rare hematological diseases and improving the care and treatment of patients worldwide. Join us in this endeavor to push the boundaries of knowledge and make a meaningful impact in the field.

Prof. Dr. Pier Paolo Piccaluga
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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Hemato is an international peer-reviewed open access quarterly 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 1200 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

  • hematopathology
  • rare hematological diseases
  • molecular mechanisms
  • diagnostic innovations
  • clinical management
  • pathology
  • molecular pathology
  • next generation sequencing
  • epidemiology
  • immunophenotyping
  • immunology
  • bone marrow disorders

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

Published Papers (6 papers)

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Research

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8 pages, 176 KB  
Article
Understanding Caregiver Knowledge to Improve Home-Based Management of Sickle Cell Disease in Zaria, Nigeria
by Musilimat H. Faleye, Hadiza Lawal, Olukemi Ajamufua, Niyi M. Adebiyi, Jamilu A. Faruk, Zainab M. Hassan and Hafsat R. Ahmad
Hemato 2026, 7(1), 7; https://doi.org/10.3390/hemato7010007 - 28 Feb 2026
Viewed by 695
Abstract
Background: Sickle cell disease (SCD) is a hereditary blood disorder marked by the production of abnormally shaped, rigid red blood cells that obstruct blood flow, resulting in pain, organ damage, and increased infection risk. SCD poses a significant public health challenge in Nigeria, [...] Read more.
Background: Sickle cell disease (SCD) is a hereditary blood disorder marked by the production of abnormally shaped, rigid red blood cells that obstruct blood flow, resulting in pain, organ damage, and increased infection risk. SCD poses a significant public health challenge in Nigeria, which has the highest global burden, with about 150,000 affected children born annually. The high prevalence is exacerbated by limited healthcare infrastructure, low public awareness, and socio-economic barriers, making effective disease management difficult. Understanding the knowledge of home-based caregivers is essential to identify gaps that may impact care quality. This study was performed within the African Research and Innovative Initiative for Sickle Cell Education (ARISE, EC GA No 824021) project to develop best practice in the clinical management of SCD. Aim: This study explores the knowledge, experiences, and educational needs of home-based caregivers of children with SCD attending the Paediatric Haematology Clinic, ABUTH, Zaria. Methods: A qualitative case study design was used, involving in-depth interviews with ten purposively selected caregivers. Interviews were conducted in Hausa, transcribed, and translated into English. Thematic analysis was performed. Results: Four themes emerged: 1. Understanding of SCD aetiology 2. Knowledge of symptoms 3. Awareness of complications and 4. Knowledge of SCD type. Conclusions: Home-based caregivers had limited knowledge of the genetic basis of the disease, but possess some knowledge of SCD key symptoms, enabling basic disease management and healthcare seeking. However, there is a need to enhance caregiver education to improve care quality and health-seeking behaviour for children with SCD. Full article
(This article belongs to the Special Issue Hematopathology: Rare Hematological Diseases)
12 pages, 466 KB  
Article
High-Initial-Dose Accelerated Titration Regimen of Ropeginterferon alfa-2b in Younger Patients with Polycythemia Vera and Essential Thrombocythemia: A Consecutive Case Series Study
by Sung-Nan Pei, Caleb Gon-Shen Chen, Hsiao-Wen Kao, Huey-En Tzeng, Ming-Lih Huang, Chih-Cheng Chen, Jasmine Hsiang-Wei Wang, Lennex Hsueh-Lin Yu and Hsin-An Hou
Hemato 2026, 7(1), 2; https://doi.org/10.3390/hemato7010002 - 31 Dec 2025
Viewed by 1643
Abstract
Introduction: Ropeginterferon alfa-2b is an emerging treatment for polycythemia vera, with growing interest in its application for essential thrombocythemia and early myelofibrosis due to its extended dosing intervals and favorable tolerability profile. However, real-world evidence regarding its dosing strategies and titration practices remains [...] Read more.
Introduction: Ropeginterferon alfa-2b is an emerging treatment for polycythemia vera, with growing interest in its application for essential thrombocythemia and early myelofibrosis due to its extended dosing intervals and favorable tolerability profile. However, real-world evidence regarding its dosing strategies and titration practices remains limited. Objective: This study examined seven younger patients, all under 60 years of age, who were treated with ropeginterferon alfa-2b. Materials and Methods: This study is a retrospective medical records review of consecutive patients from seven hospitals. Treatment was initiated at a dose of 250 micrograms, with a maintenance dose of 500 micrograms. Results: The regimen demonstrated good safety and tolerability in this real-world setting. Hematological responses were observed, along with a meaningful reduction in JAK2V617F variant allele frequency across the patient cohort. Conclusions: These findings show that the use of high-initial-dose accelerated titration (HIDAT) regimen of ropeginterferon alfa-2b is a safe and effective treatment option for younger patients with myeloproliferative neoplasms. Full article
(This article belongs to the Special Issue Hematopathology: Rare Hematological Diseases)
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Review

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18 pages, 1012 KB  
Review
Molecular Diagnostics of Aggressive B-Cell Non-Hodgkin Lymphomas
by Valeriia Tsekhovska, Pietro Cimatti, Bianca Allegra Govoni, Lynnette Kyokunda and Pier Paolo Piccaluga
Hemato 2025, 6(4), 43; https://doi.org/10.3390/hemato6040043 - 2 Dec 2025
Viewed by 1534
Abstract
Background: Malignant lymphomas are among the most common hematological neoplasms and include a heterogeneous group of entities characterized by distinct morphology, immunophenotype, genetics, and clinical features. Recent advances in molecular diagnostics have significantly improved our understanding of the genetic lesions and mechanisms underlying [...] Read more.
Background: Malignant lymphomas are among the most common hematological neoplasms and include a heterogeneous group of entities characterized by distinct morphology, immunophenotype, genetics, and clinical features. Recent advances in molecular diagnostics have significantly improved our understanding of the genetic lesions and mechanisms underlying lymphomagenesis. Methods: This review summarizes key developments in molecular pathology relevant to B-cell lymphomas, including updates from the World Health Organization classification and recent progress in genomic, immunophenotypic, and clinical assessment. We highlight findings from next-generation sequencing studies and other molecular approaches used in routine and research settings. Results: Many molecular alterations are now routinely incorporated into diagnostic criteria and influence risk stratification, prognosis, and treatment selection. Although not all lesions are evaluated in everyday clinical practice, several changes have demonstrated prognostic significance and therapeutic relevance. Molecular subclassification has refined our ability to predict clinical behavior and response to targeted therapies. Conclusions: Advances in molecular diagnostics continue to reshape the clinical approach to lymphomas. Improved classification, better identification of therapeutic targets, and more accurate prognostic tools collectively enhance personalized treatment strategies. As a result, molecular tools increasingly guide clinical decision-making and contribute to improved outcomes in patients with B-cell lymphomas. Full article
(This article belongs to the Special Issue Hematopathology: Rare Hematological Diseases)
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56 pages, 1905 KB  
Review
Multiple Myeloma and Precursor Plasma Cell Disorders: From Emerging Driver Mutations to Current and Future Therapeutic Strategies
by Henry Sutanto, Pradana Zaky Romadhon, Vembi Rizky Fatmawati, Alief Waitupu, Bagus Aditya Ansharullah, Betty Rachma, Elisa Elisa, Laras Pratiwi and Galih Januar Adytia
Hemato 2025, 6(3), 29; https://doi.org/10.3390/hemato6030029 - 18 Aug 2025
Viewed by 5262
Abstract
Multiple myeloma (MM) is a malignant plasma cell disorder that evolves from precursor conditions including monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). Understanding the biological continuum and the molecular drivers of disease progression is crucial for early diagnosis and [...] Read more.
Multiple myeloma (MM) is a malignant plasma cell disorder that evolves from precursor conditions including monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). Understanding the biological continuum and the molecular drivers of disease progression is crucial for early diagnosis and risk-adapted therapy. Recent advances in next-generation sequencing have identified recurrent mutations in the RAS/MAPK, TP53, and MYC pathways, along with epigenetic alterations that contribute to clonal evolution and therapeutic resistance. Novel diagnostic tools including minimal residual disease (MRD) assessment, gene expression profiling, and advanced imaging have improved risk stratification. Therapeutically, the integration of proteasome inhibitors, immunomodulatory drugs, and anti-CD38 monoclonal antibodies has dramatically improved patient outcomes. In parallel, emerging immunotherapies such as CAR-T cells, bispecific T-cell engagers, and antibody–drug conjugates are expanding treatment options, especially in relapsed or refractory settings. Future directions aim to personalize treatment using genomics, target the tumor microenvironment, and leverage synthetic lethality and epigenetic vulnerabilities. This review highlights the evolving landscape of plasma cell disorders from molecular pathogenesis to cutting-edge therapeutic innovations, emphasizing the need for precision medicine approaches to improve survival and quality of life for patients with MM and its precursors. Full article
(This article belongs to the Special Issue Hematopathology: Rare Hematological Diseases)
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Other

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7 pages, 4563 KB  
Case Report
Diagnosis and Treatment of Langerhans Cell Sarcoma: A Case Report and Review of the Literature
by Giulia Pileggi, Sabrina Mariani, Valentina De Santis, Gianluca Maiorana, Federica Lubrano Lobianco, Chiara Togni, Monica Piedimonte, Caterina Tatarelli, Esmeralda Conte, Arianna di Napoli, Emanuela Pilozzi, Evelina Rogges, Agostino Tafuri and Giovanna Palumbo
Hemato 2025, 6(3), 18; https://doi.org/10.3390/hemato6030018 - 26 Jun 2025
Cited by 1 | Viewed by 2626
Abstract
Langerhans cell sarcoma (LCS) is a rare and aggressive neoplasm characterized by a clonal proliferation of Langerhans cells (LCs), with multi-organ involvement and poor prognosis. Diagnostic challenges arise from its rarity and overlapping features with Langerhans cell histiocytosis (LCH), requiring immunophenotypic and histological [...] Read more.
Langerhans cell sarcoma (LCS) is a rare and aggressive neoplasm characterized by a clonal proliferation of Langerhans cells (LCs), with multi-organ involvement and poor prognosis. Diagnostic challenges arise from its rarity and overlapping features with Langerhans cell histiocytosis (LCH), requiring immunophenotypic and histological analysis for differentiation. This case report discusses a 67-year-old male with multi-organ LCS involvement. Diagnosis was confirmed via liver biopsy and genetic analysis, revealing a MAP2K1 mutation. Treatment with subcutaneous cladribine and dexamethasone resulted in significant clinical and radiological improvement, despite hematological toxicity due to an underlying myelodysplastic neoplasm (MDS). This case proves the potential efficacy of cladribine for disseminated LCS and highlights the necessity for further research into optimal therapeutic approaches for this rare malignancy. Full article
(This article belongs to the Special Issue Hematopathology: Rare Hematological Diseases)
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9 pages, 6236 KB  
Case Report
Successful Perioperative Management of Titanium Cranioplasty in a Patient with Severe Hemophilia A
by Gabriela Micurova, Kristina Maria Belakova, Tomas Simurda, Miroslava Drotarova, Jan Stasko and Branislav Kolarovszki
Hemato 2025, 6(2), 11; https://doi.org/10.3390/hemato6020011 - 26 Apr 2025
Viewed by 1366
Abstract
Background: Hemophilia A is an X-linked recessive bleeding disorder associated with high risk for intracranial hemorrhage, requiring complicated neurosurgical interventions. Perioperative management is based on quick factor replacement therapy, control of hemostasis, and deciding whether surgery will be beneficial. Methods: We report the [...] Read more.
Background: Hemophilia A is an X-linked recessive bleeding disorder associated with high risk for intracranial hemorrhage, requiring complicated neurosurgical interventions. Perioperative management is based on quick factor replacement therapy, control of hemostasis, and deciding whether surgery will be beneficial. Methods: We report the case of a 49-year-old male with severe hemophilia A who had purulent secernation via a skin fistula as a late complication of decompressive craniectomy for epidural hematoma at younger age. Results: Revision surgery was successfully managed with perioperative administration of clotting factor VIII, and the patient showed indications of titanium cranioplasty. Conclusions: A direct preoperative preparation prior to surgery in a postoperative period with controlled hemostasis has been shown to reduce hemorrhagic complications in hemophilic patients, increasing the quality of life and significant neurological complications. Full article
(This article belongs to the Special Issue Hematopathology: Rare Hematological Diseases)
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