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Advances in Hematological Malignancies: Diagnostic Strategies, Molecular Mechanisms, Prognostic Markers...
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Advances in Hematological Malignancies: Diagnostic Strategies, Molecular Mechanisms, Prognostic Markers and Therapeutic Approaches

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 August 2026 | Viewed by 1465

Special Issue Editors

Dr. José Antonio García-Vela

E-Mail Website
Guest Editor
Hematology Department, Hospital Universitario Puerta de Hierro, Majadahonda, 28034 Madrid, Spain
Interests: hematology; chronic lymphocytic leukemia; immunophenotyping; leukemia; flow cytometry; molecular biology; genetics
Special Issues, Collections and Topics in MDPI journals
Dr. Fernando Martin-Moro

E-Mail Website
Guest Editor
Hematology Department, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain
Interests: hematology; lymphoma; immunophenotyping; flow cytometry; cytomorphology

Special Issue Information

Dear Colleagues,

We are pleased to announce a call for submissions for a Special Issue of Biomedicines entitled ‘Advances in Hematological Malignancies: Diagnostic Strategies, Molecular Mechanisms, Prognostic Markers and Therapeutic Approaches’. This Issue aims to provide a comprehensive overview of the latest advancements in the diagnosis, prognosis and treatment of hematological malignancies.

We invite physicians, researchers and in-training specialists to submit both original research articles and reviews that address current challenges and innovations in the field. Topics of interest include, but are not limited to, the following:

  • Novel diagnostic strategies in hematological malignancies, with special interest in molecular mechanisms.
  • Identification and validation of prognostic markers for hematological neoplasms.
  • Targeted therapies, immunotherapy and cellular therapy for the treatment of hematological tumors.

We encourage contributions that offer new perspectives or highlight emerging trends in both the diagnostic and therapeutic fields.

We look forward to your valuable contributions.

Dr. José Antonio García-Vela
Dr. Fernando Martin-Moro
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 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. Biomedicines is an international peer-reviewed open access monthly 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

  • hematological malignancies
  • diagnostic strategies
  • hematopathology
  • flow cytometry
  • molecular biology
  • prognostic markers
  • targeted therapies
  • immunotherapy
  • cellular therapy

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Published Papers (1 paper)

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Research

14 pages, 4032 KB  
Article
Integrated RNA-seq and RT-qPCR Workflow Identifies Non-IGH Fusion Transcripts as Individualized Molecular Markers for Monitoring Multiple Myeloma
by Yifei Ren, Yang Lu, Dan Huang, Xuehong Zhang, Beibei Gao, Xijia Wang, Xiangjie Kui, Hongchen Liu, Jiacheng Lou and Jinsong Yan
Biomedicines 2026, 14(2), 354; https://doi.org/10.3390/biomedicines14020354 - 3 Feb 2026
Viewed by 969
Abstract
Background: Multiple myeloma (MM) is a hematologic malignancy characterized by clonal plasma cell expansion and diverse genomic rearrangements, including immunoglobulin heavy chain (IGH) translocations. Although RNA sequencing enables the comprehensive detection of IGH-associated fusions, routine molecular monitoring remains limited, particularly in non-secretory [...] Read more.
Background: Multiple myeloma (MM) is a hematologic malignancy characterized by clonal plasma cell expansion and diverse genomic rearrangements, including immunoglobulin heavy chain (IGH) translocations. Although RNA sequencing enables the comprehensive detection of IGH-associated fusions, routine molecular monitoring remains limited, particularly in non-secretory MM (NSMM), which lacks measurable serologic markers. Methods: Here, we contracted an integrated system combining RNA sequencing (RNA-seq) and reverse transcription quantitative polymerase chain reaction (RT-qPCR) to identify and validate fusion gene-based molecular markers for minimal residual disease (MRD) monitoring. Results: The global fusion landscape was delineated by the sequencing analysis of bone marrow samples from 22 newly diagnosed patients with MM. A total of 362 fusion events were identified, of which 190 non-immunoglobulin fusions were selected for detailed characterization. Recurrent breakpoints were concentrated on chromosomes 1 and 19, and five recurrent fusions, DDX5::EEF1A1, OAZ1::KLF2, OAZ1::KLF16, PFKFB3::LINC02649, and PLXNB2::SCO2, were detected across nine patients. Functional enrichment analyses indicated the significant involvement of these genes in RNA splicing regulation, transcriptional misregulation in cancer-related pathways, and focal adhesion processes. Twenty-three fusion transcripts were validated using RT-PCR and Sanger sequencing, demonstrating high specificity for MM. Longitudinal monitoring revealed that the quantitative assessment of fusion transcript levels enabled earlier relapse detection than flow cytometry, including in NSMM, where conventional MRD tools are ineffective. Conclusions: These findings suggest that individualized fusion transcripts serve as robust molecular markers for MRD surveillance. The proposed RNA-seq–RT-qPCR pipeline offers a clinically practical strategy to enhance precision diagnosis and personalized treatment in MM. Full article
(This article belongs to the Special Issue Advances in Hematological Malignancies: Diagnostic Strategies, Molecular Mechanisms, Prognostic Markers and Therapeutic Approaches)
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