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Diagnostics
Special Issues
Diagnosis and Management of Hematologic Malignancies
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Diagnosis 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: 30 September 2026 | Viewed by 5360

Special Issue Editor

Dr. Ankur Varma

E-Mail Website
Guest Editor
Winthrop P. Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
Interests: acute myeloid leukemia; Hodgkin's lymphoma; myelodysplastic syndrome; chronic myeloid leukemia

Special Issue Information

Dear Colleagues,

Hematologic malignancies encompass a diverse group of myeloid and lymphoid cancers. They are broadly classified into myeloid (AML, MDS/MPN, CML) and lymphoid malignancies (ALL, CLL, lymphoma, and myeloma). With the increase in our understanding of the pathogenesis and molecular insights of these malignancies, much of the diagnosis and treatment has shifted to genetic analysis, cellular, and immunotherapy. Bispecific antibodies and CAR T cells have probably been one of the most significant developments for B cell malignancies and multiple myeloma in the last decade. These therapies are well tolerated even in the elderly and frail people and more and more patients are now eligible to get these treatments, resulting in increased survival. This research topic aims to address the specific gaps and challenges, identify the current approaches, and suggest innovative measures for diagnosing and managing hematologic malignancies. In addition to adult hematology, preference will also be given to articles focusing on pediatric populations as there are subtle yet important differences in the management of these two populations. Articles can include, mini-reviews, reviews, systemic reviews, or original research.

Dr. Ankur Varma
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. 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

  • acute myeloid leukemia
  • chronic myeloid leukemia
  • myelodysplastic syndrome
  • myeloproliferative neoplasm
  • Hodgkin's lymphoma
  • non-Hodgkin's lymphoma
  • acute lymphocytic leukemia
  • chronic lymphocytic leukemia
  • bone marrow failure syndrome
  • juvenile myelomonocytic leukemia

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Published Papers (4 papers)

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Research

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12 pages, 1395 KB  
Article
Combinatory Flowcytometric Approach in Pediatric Acute Lymphoid Leukemia Identifies Surrogate Minimal Residual Disease Markers
by Noreen Grace George, Bhavika Rishi, Sanghmitra Ray, Manpreet Kaur, Raj Kamal, Shikha Garg, Sumit Mehndiratta, Nidhi Chopra, Shamsuz Zaman, Amitabh Singh and Aroonima Misra
Diagnostics 2025, 15(6), 658; https://doi.org/10.3390/diagnostics15060658 - 8 Mar 2025
Cited by 1 | Viewed by 1959
Abstract
Background/Objectives: Minimal residual disease (MRD) refers to the resistant clonal population of leukemia cells that survive induction chemotherapy, serving as a critical indicator of treatment response in pediatric Acute Lymphoid Leukemia (ALL). While flow cytometry (FCM) and molecular methods are standard for [...] Read more.
Background/Objectives: Minimal residual disease (MRD) refers to the resistant clonal population of leukemia cells that survive induction chemotherapy, serving as a critical indicator of treatment response in pediatric Acute Lymphoid Leukemia (ALL). While flow cytometry (FCM) and molecular methods are standard for MRD detection, novel leukemia-associated immunophenotype (LAIP) markers are needed when conventional markers are insufficient. Methods: MRD was assessed in 218 pediatric B-ALL patients using a combinatory approach of Different-from-Normal (DfN) and LAIP strategies. An eight-color flow cytometry panel included routine MRD markers (e.g., CD10, CD19, and CD20) and less commonly used markers (e.g., CD123, CD73, CD86). Cytogenetic and molecular profiling were integrated to evaluate the association between genetic abnormalities and MRD positivity. Results: The combined DfN and LAIP approach enhanced MRD detection sensitivity compared to individual methods. CD7 showed a significant association with MRD positivity (p = 0.003), whereas CD73 (p = 0.000) and CD86 (p = 0.002) correlated with MRD-negative status. CD123 exhibited the highest aberrancy among MRD-positive cases, while CD81 had the lowest. These findings highlight the prognostic potential of CD73 and CD86 for MRD-negative status, complementing the established utility of CD123. Conclusions: Incorporating novel markers (CD123, CD73, CD86, and CD81) into MRD panels enhances detection sensitivity and clinical applicability. These markers are compatible with standard flow cytometry, supporting their integration into routine practice for comprehensive MRD evaluation, ultimately improving therapeutic outcomes in pediatric B-ALL. Full article
(This article belongs to the Special Issue Diagnosis and Management of Hematologic Malignancies)
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18 pages, 1859 KB  
Article
Modified Endothelial Activation and Stress Index: A New Predictor for Survival Outcomes in Classical Hodgkin Lymphoma Treated with Doxorubicin-Bleomycin-Vinblastine-Dacarbazine-Based Therapy
by Fazıl Çağrı Hunutlu, Hikmet Öztop, Vildan Gürsoy, Tuba Ersal, Ezel Elgün, Şeyma Yavuz, Selin İldemir Ekizoğlu, Azim Ali Ekizoğlu, Vildan Özkocaman and Fahir Özkalemkaş
Diagnostics 2025, 15(2), 185; https://doi.org/10.3390/diagnostics15020185 - 14 Jan 2025
Cited by 1 | Viewed by 2299
Abstract
Background: Although the cure rates of classical Hodgkin Lymphoma (cHL) are as high as 90% using the current treatment protocols, the prognosis is poor for primary refractory patients. Thus, a biomarker that can predict patients with early progression at the time of diagnosis [...] Read more.
Background: Although the cure rates of classical Hodgkin Lymphoma (cHL) are as high as 90% using the current treatment protocols, the prognosis is poor for primary refractory patients. Thus, a biomarker that can predict patients with early progression at the time of diagnosis is an unmet clinical need. Endothelial activation and stress index (EASIX) and its variant modified EASIX (mEASIX) is a scoring system currently used for the prediction of prognosis in hematologic malignancies. This study aimed to investigate the prognostic value of the mEASIX score in newly diagnosed cHL patients. Methods: Data from 206 patients who underwent positron emission tomography (PET)-guided doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD) therapy for cHL between January 2007 and November 2023 were retrospectively analyzed. The prognostic value of the mEASIX score was evaluated using the receiver operating characteristic (ROC) analysis, Cox regression analysis, and the Kaplan–Meier method, and then compared with standard risk assessment methods. Results: The median age at diagnosis was 33 years, and the rate of patients in the advanced stage was 67%. ROC analysis determined an optimal mEASIX score cut-off of 17.28, categorizing patients into mEASIXhigh (47%) and mEASIXlow (53%) groups. The 5-year progression-free survival (PFS) (60% vs. 84.3%) and overall survival (OS) (79.6% vs. 95.8%) were significantly lower in the mEASIXhigh group (p < 0.001). Additionally, multivariate analysis showed that the independent variables affecting PFS included the nodular sclerosing subtype (HR: 0.4), bone marrow involvement (HR: 2.6), and elevated mEASIX (HR: 3.1). Independent variables, which had an effect on OS included elevated mEASIX (HR:3.8) and higher IPS-3 scores (HR:1.9). Furthermore, a higher mEASIX score (≥17.28) was identified as an independent variable indicating primary refractory disease (OR: 6.5). Conclusions: mEASIX is a powerful and easy-to-access marker for the detection of primary refractory disease and prognosis in newly diagnosed cHL cases. Full article
(This article belongs to the Special Issue Diagnosis and Management of Hematologic Malignancies)
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Other

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25 pages, 5903 KB  
Case Report
The Efficiency of Allotransplant in a Case of Acute Biphenotypic Myeloid and B-Lymphoid Leukemia (MPAL Myelo/B NOS) That Presented Concurrently with a Mediastinal Granulocytic Sarcoma Co-Expressing Lymphoid Markers Complicated by Cardiac Tamponade
by Alina Camelia Catana, Erzebeth Lazar Benedek, Ioan Zaharie, Liliana Mocanu, Geanina Mera, Cristina Popa and Lidia-Maria Mondoc
Diagnostics 2026, 16(6), 953; https://doi.org/10.3390/diagnostics16060953 - 23 Mar 2026
Viewed by 122
Abstract
Background and Clinical Significance: Mixed-phenotype acute leukemia (MPAL) is a rare hematologic malignancy characterized by the co-expression of myeloid and lymphoid markers and is associated with poor prognosis. Myeloid sarcoma (MS), particularly in the mediastinum, is an uncommon extramedullary manifestation and is [...] Read more.
Background and Clinical Significance: Mixed-phenotype acute leukemia (MPAL) is a rare hematologic malignancy characterized by the co-expression of myeloid and lymphoid markers and is associated with poor prognosis. Myeloid sarcoma (MS), particularly in the mediastinum, is an uncommon extramedullary manifestation and is rarely reported in association with MPAL. Case Presentation: We report a rare case of mediastinal MS with biphenotypic features and pericardial extension occurring concurrently with MPAL, highlighting diagnostic challenges, therapeutic strategies, and long-term outcomes. We describe the clinical course, diagnostic workup, treatment, and follow-up of a 21-year-old woman who presented with cardiac tamponade secondary to a mediastinal mass. Histopathology and immunophenotyping established the diagnosis of mediastinal MS associated with MPAL (B/myeloid, NOS). Management included surgical cytoreduction, intensive induction chemotherapy, and consolidation with allogeneic hematopoietic stem cell transplantation (allo-HSCT) from an unrelated donor. Fertility preservation with oocyte retrieval, in vitro fertilization (IVF), and embryo cryopreservation was performed prior to conditioning. A focused literature review of MPAL cases with extramedullary involvement was conducted. The patient achieved complete remission following induction therapy and underwent allo-HSCT. Despite the historically poor prognosis of mediastinal MS and MPAL, she remains in sustained complete remission 13 years after diagnosis. A literature review identified only eight reported cases of MPAL with extramedullary disease, with mediastinal involvement described in a single case and allo-HSCT performed in only two patients. Conclusions: This case illustrates a rare presentation of MPAL with mediastinal myeloid sarcoma and cardiac tamponade, demonstrating that aggressive multimodal therapy including allo-HSCT may achieve durable remission even in high-risk presentations. Early multidisciplinary management and consideration of fertility preservation are essential in young patients. Full article
(This article belongs to the Special Issue Diagnosis and Management of Hematologic Malignancies)
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13 pages, 2217 KB  
Case Report
Plasmablastic Transformation of CLL/SLL: The Role of Early NGS Diagnosis and Targeted Multimodal Therapy
by Jelena Filipović, Sara Milošević, Tatjana Terzić, Thorsten Braun, Ramy Rahmé, Grégory Lazarian, Thami Benboubker, Michael Soussan and Antoine Martin
Diagnostics 2026, 16(5), 702; https://doi.org/10.3390/diagnostics16050702 - 27 Feb 2026
Viewed by 342
Abstract
Background and Clinical Significance: Plasmablastic lymphoma (PBL) is a rare and highly aggressive B-cell neoplasm most often associated with immunodeficiency. Transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) into PBL is exceptionally uncommon, particularly in immunocompetent individuals. This paper describes a rare synchronous [...] Read more.
Background and Clinical Significance: Plasmablastic lymphoma (PBL) is a rare and highly aggressive B-cell neoplasm most often associated with immunodeficiency. Transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) into PBL is exceptionally uncommon, particularly in immunocompetent individuals. This paper describes a rare synchronous SLL-to-PBL transformation and summarizes current knowledge on synchronous and metachronous cases reported in the literature. Case Presentation A midle-aged immunocompetent patent presented with generalized lymphadenopathy and lumbar pain. Concurrent biopsies of an axillary lymph node and a retroperitoneal mass were obtained. Diagnostic evaluation included immunohistochemistry; fluorescent in situ hybridization (FISH); PCR-based assessment of IGH, IGK, and IGL loci; and next-generation sequencing (NGS) of IGHV to assess clonal relatedness. The patient was treated with six cycles of Dara-CHOP, followed by autologous stem cell transplantation and maintenance therapy with daratumumab and ibrutinib. The axillary node showed SLL (CD20+, CD5+, CD23+), while the retroperitoneal mass demonstrated classic features of PBL (CD138+, MUM1+, MYC+, Ki-67 ~100%, CD20−). FISH detected MYC rearrangement in the PBL component. PCR and NGS confirmed identical IGHV1-69 rearrangements, establishing clonal relatedness and Richter transformation. A review of published cases shows that both synchronous and metachronous CLL/SLL-to-PBL transformations are exceedingly rare. The patient achieved partial metabolic remission after treatment and remains in sustained metabolic response 24 months after diagnosis. Conclusions: This case highlights a rare example of synchronous CLL/SLL-to-PBL transformation in an immunocompetent patient. Integration of detailed molecular diagnostics enabled early recognition and guided a personalized treatment approach incorporating CD38-targeted therapy and BTK inhibition, resulting in an excellent long-term clinical outcome. Full article
(This article belongs to the Special Issue Diagnosis and Management of Hematologic Malignancies)
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