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Molecular Research in Hematologic Malignancies
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Molecular Research in Hematologic Malignancies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: 30 November 2025 | Viewed by 1425

Special Issue Editors

Dr. Rachid Lahlil

E-Mail Website
Guest Editor
Institut de Recherche en Hématologie et Transplantation (IRHT), Hôpital du Hasenrain, 87 Avenue d’Altkirch, 68100 Mulhouse, France
Interests: stem cells; leukemia; biomarkers; mechanisms of multi-drug; epigenetic
Special Issues, Collections and Topics in MDPI journals
Dr. Anne Aries

E-Mail Website
Guest Editor
Institut de Recherche en Hématologie et Transplantation (IRHT), Hôpital du Hasenrain, 87 Avenue d’Altkirch, 68100 Mulhouse, France
Interests: stem cell research; cell therapy; epigenetic regulation in hematologic malignancies; molecular research; non-coding RNAs; DNA methylation; non-invasive diagnosis; regenerative medicine

Special Issue Information

Dear Colleagues,

The molecular regulation of hematopoietic stem cells (HSCs), including their proliferation, self-renewal, and differentiation, plays a central role in the development and progression of hematologic malignancies. A thorough understanding of these regulatory mechanisms, alongside the identification of novel pathways and biomarkers such as mutations, differentially methylated regions, and non-coding RNAs, is crucial for enhancing diagnostic precision, prognostic assessment, and the development of targeted therapies.

The field of molecular diagnostics and therapeutics in hematopoietic malignancies is currently at a pivotal juncture. Despite significant progress, the molecular determinants that predispose specific healthy cell populations to oncogenic reprogramming and the acquisition of aberrant self-renewal capacity remain insufficiently characterized.

This Special Issue aims to highlight recent advances in the molecular regulation of normal hematopoiesis and the mechanisms that promote leukemogenesis. It also seeks to address existing gaps in the knowledge and propose future directions for innovative diagnostic and therapeutic approaches. We welcome the submission of original research articles and comprehensive reviews on the following topics:

  • Molecular mechanisms regulating hematopoiesis;
  • Drivers of malignant transformation;
  • Non-invasive diagnostic and prognostic strategies and innovations;
  • Emerging targeted therapies in hematologic malignancies.

Dr. Rachid Lahlil
Dr. Anne Aries
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • therapeutic targets
  • leukemogenesis
  • molecular regulation
  • cancer stem cells
  • epigenetics
  • novel biomarkers
  • non-coding RNA
  • DNA methylation
  • chemotherapy and genetic changes
  • cancer
  • hematologic malignancies

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Published Papers (2 papers)

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Research

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17 pages, 4942 KB  
Article
Detection of XPO1E571K Gene Mutation from Cell-Free DNA in Blood Circulation of Lymphoma Patients by FAST-COLD PCR
by Suwit Duangmano, Natsima Viriyaadhammaa, Pinyaphat Khamphikham, Nutjeera Intasai, Adisak Tantiworawit, Teerada Daroontum, Sawitree Chiampanichayakul and Songyot Anuchapreeda
Int. J. Mol. Sci. 2025, 26(15), 7324; https://doi.org/10.3390/ijms26157324 - 29 Jul 2025
Viewed by 382
Abstract
The XPO1 (exportin 1) gene encodes exportin 1 protein responsible for transporting proteins and RNA from the nucleus to the cytoplasm. It has been used as a biomarker for lymphoma detection. XPO1E571K mutation has been frequently observed and identified as [...] Read more.
The XPO1 (exportin 1) gene encodes exportin 1 protein responsible for transporting proteins and RNA from the nucleus to the cytoplasm. It has been used as a biomarker for lymphoma detection. XPO1E571K mutation has been frequently observed and identified as a good prognostic indicator for lymphoma patients. The detection of a target molecule released by lymphoma cells into blood circulation (cell-free circulating tumor DNA, cfDNA) is a better method than tissue biopsy. However, cfDNA concentration in blood circulation is very low in cancer patients. Therefore, a precise and sensitive method is needed. In this study, cfDNA was extracted, and then the XPO1 gene was detected and amplified using conventional PCR. Sanger sequencing was employed to verify the DNA sequences. FAST-COLD-PCR was developed to detect XPO1E571K gene mutation using a CFX96 Touch Real-Time PCR System. The optimal critical temperature (Tc) was 73.3 °C, allowing selective amplification of XPO1E571K mutant DNA while wild-type XPO1 could not be amplified. XPO1E571K gene mutation can be detected by this method with high specificity and sensitivity in lymphoma patients. This approach facilitates rapid and straightforward detection in a timely manner after the diagnosis. Accordingly, the optimized FAST-COLD-PCR conditions can be used as a prototype for XPO1E571K mutant detection in lymphoma patients. Full article
(This article belongs to the Special Issue Molecular Research in Hematologic Malignancies)
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Review

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25 pages, 1035 KB  
Review
Liquid Biopsy and Epigenetic Signatures in AML, ALL, and CNS Tumors: Diagnostic and Monitoring Perspectives
by Anne Aries, Bernard Drénou and Rachid Lahlil
Int. J. Mol. Sci. 2025, 26(15), 7547; https://doi.org/10.3390/ijms26157547 - 5 Aug 2025
Viewed by 794
Abstract
To deliver the most effective cancer treatment, clinicians require rapid and accurate diagnoses that delineate tumor type, stage, and prognosis. Consequently, minimizing the need for repetitive and invasive procedures like biopsies and myelograms, along with their associated risks, is a critical challenge. Non-invasive [...] Read more.
To deliver the most effective cancer treatment, clinicians require rapid and accurate diagnoses that delineate tumor type, stage, and prognosis. Consequently, minimizing the need for repetitive and invasive procedures like biopsies and myelograms, along with their associated risks, is a critical challenge. Non-invasive monitoring offers a promising avenue for tumor detection, screening, and prognostication. While the identification of oncogenes and biomarkers from circulating tumor cells or tissue biopsies is currently standard practice for cancer diagnosis and classification, accumulating evidence underscores the significant role of epigenetics in regulating stem cell fate, including proliferation, self-renewal, and malignant transformation. This highlights the importance of analyzing the methylome, exosomes, and circulating RNA for detecting cellular transformation. The development of diagnostic assays that integrate liquid biopsies with epigenetic analysis holds immense potential for revolutionizing tumor management by enabling rapid, non-invasive diagnosis, real-time monitoring, and personalized treatment decisions. This review covers current studies exploring the use of epigenetic regulation, specifically the methylome and circulating RNA, as diagnostic tools derived from liquid biopsies. This approach shows promise in facilitating the differentiation between primary central nervous system lymphoma and other central nervous system tumors and may enable the detection and monitoring of acute myeloid/lymphoid leukemia. We also discuss the current limitations hindering the rapid clinical translation of these technologies. Full article
(This article belongs to the Special Issue Molecular Research in Hematologic Malignancies)
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