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Diagnostics
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Diagnosis, Prognosis and Management of Hematologic Malignancies
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Diagnosis, Prognosis and Management of Hematologic Malignancies

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 March 2025 | Viewed by 4742

Special Issue Editors

Prof. Dr. Rossella Cacciola

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Guest Editor
Institute of Hematology/Hemostasis, University of Catania, Catania, Italy
Interests: myeloproliferative neoplasms; hemostasis; coagulation; thrombosis; platelet
Special Issues, Collections and Topics in MDPI journals
Dr. Emma C. Cacciola

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Guest Editor
Hemostasis Unit, Department of Medical, Surgical Sciences and Advanced Technologies “G.F. Ingrassia”, University of Catania, Catania, Italy
Interests: myeloproliferative neoplasms; haemostasis; diagnosis; therapy
Special Issues, Collections and Topics in MDPI journals
Dr. Alessandra Romano

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Guest Editor
Dipartimento di Chirurgia e Specialità Medico Chirurgiche, Sezione di Ematologia, Università degli Studi di Catania, Catania, Italy
Interests: hematology
Special Issues, Collections and Topics in MDPI journals
Dr. Alessandro Allegra

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Guest Editor
Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Messina, Messina, Italy
Interests: oncology

Special Issue Information

Dear Colleagues,

Hematologic malignancies are cancers affecting blood, bone marrow and lymphonodes. They include leukemias, myeloproliferative and lymphoproliferative neoplasms, including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), lymphoma and multiple myeloma (MM), respectively. Acute myeloid leukemia (AML) is a clonal hematopoietic disorder characterized by a block in myeloid differentiation. Despite an improved understanding of the molecular and phenotypic characteristics of AML, there is a poor or moderate anti-leukemic response or relapse following short remission. Therefore, the identification of therapeutic targets expressed on leukemia stem cells might improve the potential clinical of AML treatment as well as predict patient outcome. Myeloproliferative neoplasms (MPNs) are malignancies caused by somatic driver mutations, such as JAK2V617F. MPNs have critical outcomes, including progression to MF or blast phase disease (MPN-BP), thrombosis and death. As a result, novel approaches are needed to understand and predict outcomes in MPN patients. MM arises from malignant plasma cells. Despite the introduction of novel therapeutic agents, MM remains an incurable disease with frequent relapses. Therefore, the identification of the mechanisms by which tumor cells evade therapy is warranted. Diffuse large B-cell lymphoma (DLBCL) is a lymphoid cancer characterized by frequent relapses. Therefore, studies on the pathogenesis of DLBCL are recommended.

Prof. Dr. Rossella Cacciola
Dr. Emma C. Cacciola
Dr. Alessandra Romano
Dr. Alessandro Allegra
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. Diagnostics is an international peer-reviewed open access semimonthly 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 2600 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

  • leukemia
  • myeloproliferative neoplasms
  • myeloma
  • lymphoma

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Published Papers (4 papers)

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Research

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12 pages, 2919 KiB  
Article
Ikaros Deletions among Bulgarian Patients with Acute Lymphoblastic Leukemia/Lymphoma
by Stefan Lozenov, Yoanna Tsoneva, Georgi Nikolaev and Rossitza Konakchieva
Diagnostics 2024, 14(17), 1953; https://doi.org/10.3390/diagnostics14171953 - 3 Sep 2024
Viewed by 679
Abstract
The Ikaros zinc finger factor 1 is a transcription factor with a well-known role in B- and T-cell development. The deletions of IKZF1 have an established significance in acute lymphoblastic leukemia, while reports on its prevalence and prognostic significance among ALL subtypes and [...] Read more.
The Ikaros zinc finger factor 1 is a transcription factor with a well-known role in B- and T-cell development. The deletions of IKZF1 have an established significance in acute lymphoblastic leukemia, while reports on its prevalence and prognostic significance among ALL subtypes and regions vary. Breakpoint-specific qPCR is a practical method for testing of the most frequent types of IKZF1 deletions, considering there is clustering of the deletion events. The most commonly reported deletions are Δ4–7, Δ4–8, Δ2–7, and Δ2–8, with deletion Δ4–7 being the most common one. We retrospectively administered a breakpoint-specific qPCR design for screening for the most frequent types of IKZF1 deletions to 78 ALL patients that were diagnosed and treated between 2010 and 2022. We observed the products through gel electrophoresis, and we conducted descriptive statistics, EFS, and OS analyses. Our study found 19 patients with IKZF1 deletions, with two subjects manifesting more than one deletion. The prevalence in the different subgroups was as follows: Ph/+/ B-ALL 46%, Ph/−/ B-ALL 30%, T-ALL/LBL 4%. There was a statistically significant difference in EFS of 39 vs. 0% in favor of patients without deletions (p = 0.000), which translated to a difference in OS of 49 vs. 0% (p = 0.001). This difference was preserved in the subgroup of Ph/−/ B-ALL, while there was no significant difference in the Ph/+/ B-ALL. The most frequently observed type of deletion (15 out of 19) was the Δ4–7. There is a strong negative prognostic impact of the IKZF1 deletions at diagnosis in the observed population. IKZF1 deletion testing through breakpoint-specific qPCR is a practical approach in diagnostic testing for this risk factor. IKZF1 deletions may warrant treatment decisions and intensified treatment strategies to overcome the negative prognostic impact. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis and Management of Hematologic Malignancies)
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9 pages, 500 KiB  
Article
Sydney Reporting System for Lymph Node Fine-Needle Aspiration and Malignancy Risk Stratification: Is It of Clinical Value?
by Doaa Alqaidy, Hind Althomali and Amal Almaghrabi
Diagnostics 2024, 14(16), 1801; https://doi.org/10.3390/diagnostics14161801 - 17 Aug 2024
Viewed by 917
Abstract
Lymphadenopathy is a common presentation of both reactive and malignant diseases, and lymph node fine-needle aspiration cytology (LN-FNAC) is an effective and inexpensive screening method. It can prevent unnecessary invasive surgery and excisional biopsy, especially in benign cases. Unfortunately, the lack of universally [...] Read more.
Lymphadenopathy is a common presentation of both reactive and malignant diseases, and lymph node fine-needle aspiration cytology (LN-FNAC) is an effective and inexpensive screening method. It can prevent unnecessary invasive surgery and excisional biopsy, especially in benign cases. Unfortunately, the lack of universally accepted terminology for reporting results has hindered its widespread support. The Sydney system proposal for lymph node cytopathology categorization and reporting introduced five diagnostic categories to address the lack of universally accepted terminology for reporting results in lymphadenopathy. Our study analyzed 188 lymph node fine-needle cytology (FNC) samples from King Abdulaziz University Hospital, Saudi Arabia, examining clinical follow-up data, pathology records, patient information, and final diagnosis from January 2019 to December 2022. Most specimens were from axillary lymph nodes, with 99.5% tissue correlation. The Sydney system category classification identified 56.9% of cases as malignant, while 26.1% were benign. The final surgical specimen diagnosis revealed a higher percentage of malignant diagnoses, with the highest risk of malignancy (ROM) in malignant/category V. In conclusion, our study demonstrates that LN-FNAC offers high diagnostic accuracy for lymph node (LN) aspirates, with the Sydney approach potentially aiding risk stratification and achieving consistency in cytologic diagnosis, but further multi-centric research is needed. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis and Management of Hematologic Malignancies)
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8 pages, 234 KiB  
Article
WHO/ICC Classification for Myelodysplastic Neoplasms/Syndromes Performs Better for Subtype Cytomorphological Diagnosis?
by Ana Isabel Vicente, Irene Luna, Juan Carlos Ruiz, María José Remigia, Andrés Jerez, Rafael Lluch, Inmaculada Llopis, María Josefa Marco, Carmen Benet, Carmen Alonso, María Dolores Linares, Luis Serrano, María Teresa Orero, Francisco José Ortuño and María Leonor Senent
Diagnostics 2024, 14(15), 1631; https://doi.org/10.3390/diagnostics14151631 - 29 Jul 2024
Viewed by 926
Abstract
The International Consensus Classification of Myeloid Neoplasms and Acute Leukemias (ICC) and the 5th edition of the WHO classification (WHO 2022) have refined the diagnosis of myelodysplastic syndromes (MDS). Both classifications segregate MDS subtypes based on molecular or cytogenetic findings but rely on [...] Read more.
The International Consensus Classification of Myeloid Neoplasms and Acute Leukemias (ICC) and the 5th edition of the WHO classification (WHO 2022) have refined the diagnosis of myelodysplastic syndromes (MDS). Both classifications segregate MDS subtypes based on molecular or cytogenetic findings but rely on the subjective assessment of blast cell percentage and dysplasia in hematopoietic cell lineages. This study aimed to evaluate interobserver concordance among 13 cytomorphologists from eight hospitals in assessing blast percentages and dysplastic features in 44 MDS patients. The study found fair interobserver agreement for the PB blast percentage and moderate agreement for the BM blast percentage, with the best concordance in cases with <5% BM blasts and >10% BM blasts. Monocyte count agreement was fair, and dysplasia assessment showed moderate concordance for megakaryocytic lineage but lower concordance for erythroid and granulocytic lineages. Overall, interobserver concordance for MDS subtypes was moderate across all classifications, with slightly better results for WHO 2022. These findings highlight the ongoing need for morphological evaluation in MDS diagnosis despite advances in genetic and molecular techniques. The study supports the blast percentage ranges established by the ICC but suggests refining BM blast cutoffs. Given the moderate interobserver concordance, a unified classification approach for MDS is recommended. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis and Management of Hematologic Malignancies)

Review

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21 pages, 958 KiB  
Review
Autoimmune Diseases and Plasma Cells Dyscrasias: Pathogenetic, Molecular and Prognostic Correlations
by Laura Giordano, Rossella Cacciola, Paola Barone, Veronica Vecchio, Maria Elisa Nasso, Maria Eugenia Alvaro, Sebastiano Gangemi, Emma Cacciola and Alessandro Allegra
Diagnostics 2024, 14(11), 1135; https://doi.org/10.3390/diagnostics14111135 - 29 May 2024
Viewed by 1696
Abstract
Multiple myeloma and monoclonal gammopathy of undetermined significance are plasma cell dyscrasias characterized by monoclonal proliferation of pathological plasma cells with uncontrolled production of immunoglobulins. Autoimmune pathologies are conditions in which T and B lymphocytes develop a tendency to activate towards self-antigens in [...] Read more.
Multiple myeloma and monoclonal gammopathy of undetermined significance are plasma cell dyscrasias characterized by monoclonal proliferation of pathological plasma cells with uncontrolled production of immunoglobulins. Autoimmune pathologies are conditions in which T and B lymphocytes develop a tendency to activate towards self-antigens in the absence of exogenous triggers. The aim of our review is to show the possible correlations between the two pathological aspects. Molecular studies have shown how different cytokines that either cause inflammation or control the immune system play a part in the growth of immunotolerance conditions that make it easier for the development of neoplastic malignancies. Uncontrolled immune activation resulting in chronic inflammation is also known to be at the basis of the evolution toward neoplastic pathologies, as well as multiple myeloma. Another point is the impact that myeloma-specific therapies have on the course of concomitant autoimmune diseases. Indeed, cases have been observed of patients suffering from multiple myeloma treated with daratumumab and bortezomib who also benefited from their autoimmune condition or patients under treatment with immunomodulators in which there has been an arising or worsening of autoimmunity conditions. The role of bone marrow transplantation in the course of concomitant autoimmune diseases remains under analysis. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis and Management of Hematologic Malignancies)
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