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Advances in Molecular Biology of Haematology

A Special Issue of International Journal of Molecular Sciences (ISSN 1422-0067) belonging to the section "Molecular Biology".

Deadline for manuscript submissions: 23 April 2027 | Viewed by 951

Editor


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Guest Editor
1. Research Department, Portuguese League Against Cancer (NRNorte), 4200-172 Porto, Portugal
2. Molecular Oncology and Viral Pathology Group, Research Center of IPO Porto (CI-IPOP)/CI-IPOP@RISE (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)/Pathology and Laboratory Medicine Department/Clinical Pathology/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), 4200-072 Porto, Portugal
Interests: thrombosis; venous thromboembolism; cachexia; cancer; ovarian cancer; prostate cancer; colorectal cancer; cervical cancer; genetic polymorphisms; SNPs; microRNAs; athletic performance; lncRNAs

Special Issue Information

Dear Colleagues,

Breakthroughs in molecular biology and high-resolution analytical technologies are rapidly transforming the landscape of haematology. This Special Issue aims to bring together a curated set of contributions that highlight the most impactful advances shaping our understanding of blood formation, function, and disease at the molecular level. With a strong emphasis on innovation and translational relevance, the Special Issue will showcase research spanning the fundamental mechanisms of haematopoiesis, genetic and epigenetic regulation, immune-haematopoietic interactions and the molecular drivers of haematological malignancies. 

Submissions integrating cutting-edge methodologies, such as single-cell and spatial multi-omics and CRISPR-based gene editing, and computational approaches, are particularly encouraged, as they offer unprecedented resolution in dissecting the complexity of blood cell development, function, and pathology.

Key themes and emerging trends to be featured:
Single-cell and spatial genomics in haematology: elucidating cellular heterogeneity within the bone marrow niche and immune compartments, and providing new insights into normal haematopoietic development, clonal evolution in leukaemia, and mechanisms of treatment resistance.
Gene editing and therapeutic innovation: advances in CRISPR/Cas9, base editing, and gene-regulatory strategies for the correction of inherited blood disorders, alongside the development of novel molecular therapies.
Molecular mechanisms of haematological malignancies: identification of driver mutations, epigenetic dysregulation, and transcriptional networks in haematological tumours, with direct implications for precision diagnostics and disease management.
Immunogenomics and haematopoietic-immune interactions: exploration of the reciprocal relationship between the immune system and haematopoiesis.
Liquid biopsy and molecular diagnostics: recent progress in circulating biomarkers enabling minimally invasive disease monitoring, early detection, and personalised risk stratification.

By highlighting integrated and multidisciplinary approaches, this Special Issue aims to underscore how molecular haematology is driving the next generation of diagnostic tools and therapeutic strategies.

Dr. Valéria Tavares
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-anonymized 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

  • haematopoiesis
  • molecular biology
  • genomics
  • epigenomics
  • computational biology
  • hematologic neoplasms
  • biomarkers
  • liquid biopsy
  • precision medicine

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Published Papers (1 paper)

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Research

17 pages, 1806 KB  
Article
Vitamin D Receptor rs731236 Polymorphism Modulates Cancer Cachexia Susceptibility and Overall Survival: A Real-World Study on Context-Dependent Vitamin D Signalling
by Valéria Tavares, Ana Carolina Leão Silva, Anna Flávia Xavier, Inês Guerra de Melo, Tiago Ferreira, Mariana Moreira Pires, Cláudia Silva, Virgínia Rocha Dias, Maria Paula Silva, Joana M. O. Santos and Rui Medeiros
Int. J. Mol. Sci. 2026, 27(13), 5816; https://doi.org/10.3390/ijms27135816 - 27 Jun 2026
Viewed by 618
Abstract
Cancer-associated cachexia (CAC) is a complex metabolic syndrome characterised by progressive skeletal muscle loss, systemic inflammation, reduced treatment tolerance, and poor survival. Marked interindividual variability in CAC susceptibility suggests that host genetic factors may contribute to its development. Vitamin D plays an important [...] Read more.
Cancer-associated cachexia (CAC) is a complex metabolic syndrome characterised by progressive skeletal muscle loss, systemic inflammation, reduced treatment tolerance, and poor survival. Marked interindividual variability in CAC susceptibility suggests that host genetic factors may contribute to its development. Vitamin D plays an important role in muscle metabolism and inflammatory control through activation of the vitamin D receptor (VDR). VDR signalling influences myogenesis, mitochondrial function, insulin-like growth factor pathways, and pro-inflammatory cytokine expression, all of which are implicated in CAC pathogenesis. Hence, VDR variants, including the rs731236 (A>G) polymorphism, which modifies receptor activity, may affect CAC pathogenesis. Thus, this study investigated the association between the polymorphism and susceptibility to CAC as well as patient survival in a cohort of 140 adult cancer patients. Briefly, the rs731236 GG genotype was significantly associated with a lower prevalence of CAC across disease diagnostic approaches (chi-square tests, p < 0.05). Furthermore, GG genotype carriers demonstrated significantly improved survival compared with carriers of AA/AG genotypes (Log-rank and Tarone–Ware tests, p < 0.05). In summary, these findings suggest that the rs731236 polymorphism influences both susceptibility to CAC and survival outcomes in patients with cancer, further supporting a clinically relevant role for vitamin D signalling in supportive oncology care. Full article
(This article belongs to the Special Issue Advances in Molecular Biology of Haematology)
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