International Journal of Molecular Sciences

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Molecular Diagnostics and Therapeutic Advances in Hematology: From Mechanisms to Clinical Applications

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Dear Colleagues,

Recent advances in hematology have been driven by the integration of molecular biology, immunology, and clinical diagnostics. Progress in genomic analysis, immune profiling, and biomarker development is reshaping disease classification and informing therapeutic strategies across varied hematologic disorders.

This Special Issue will highlight studies that bridge molecular mechanisms with clinically relevant diagnosis and treatment. We welcome original research and reviews covering molecular diagnostics, disease biology, immunology, and therapeutic approaches in both malignant and non-malignant hematologic conditions.

Topics of interest include, but are not limited to, molecular diagnostics, hematopoietic cell transplantation, bone marrow failure, hematologic malignancies, laboratory biomarkers, and emerging therapeutic strategies.

Suggested themes and article types:

Original research articles and reviews;
Molecular diagnostics and disease classification in hematologic disorders;
Disease biology, immunopathophysiology, and biomarker development;
Hematopoietic cell transplantation, graft-versus-host disease, and immune reconstitution;
Bone marrow failure and marrow microenvironment;
Hematologic malignancies and plasma cell disorders;
Emerging therapeutic strategies, including targeted and immune-based therapies;
Translational studies linking molecular findings to clinical practice.

We look forward to receiving your contributions.

Prof. Dr. Akiyoshi Takami
Dr. Jorge Luis Espinoza
Guest Editors

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19 pages, 1097 KB

Open AccessReview

The Prognostic Value of Circulating Tumor DNA for Clinical Outcomes in Patients Undergoing Hematopoietic Cell Transplantation: A Systematic Review and Meta-Analysis

by Do Tung Dac, Hirokazu Tanaka, Akiyoshi Takami and Jorge Luis Espinoza

Int. J. Mol. Sci. 2026, 27(11), 5076; https://doi.org/10.3390/ijms27115076 - 4 Jun 2026

Viewed by 755

Abstract

Relapse remains the leading cause of treatment failure following hematopoietic cell transplantation (HCT) for hematologic malignancies. Circulating tumor DNA (ctDNA) has emerged as a promising minimally invasive biomarker for measurable residual disease (MRD) assessment and early relapse detection; however, the prognostic significance of ctDNA in the post-transplant setting has not been comprehensively synthesized. We conducted a systematic review and meta-analysis in accordance with PRISMA guidelines and registered the protocol in PROSPERO (CRD420261392100). PubMed, Embase, Web of Science, EBSCO, Cochrane CENTRAL, and supplementary sources were searched through November 2025. Eligible studies evaluated tumor-specific ctDNA or tumor-informed/tumor-associated cfDNA in patients undergoing allogeneic or autologous HCT for hematologic malignancies. Random-effects meta-analyses were performed for relapse/progression, overall survival (OS), and relapse-free/progression-free survival (RFS/PFS). Studies evaluating total cfDNA quantity, methylation-based cfDNA profiling, cfRNA, or chimerism-only monitoring were synthesized narratively. Ten observational cohort studies comprising 883 patients met inclusion criteria. Across acute leukemias, lymphomas, multiple myeloma, and myelodysplastic syndromes, ctDNA/cfDNA positivity was consistently associated with adverse outcomes. The pooled hazard ratio (HR) for relapse or disease progression was 12.57 (95% CI: 4.59–34.46; p < 0.001), while pooled HRs were 7.45 (95% CI: 4.11–13.48; p < 0.001) for OS and 4.46 (95% CI: 2.22–8.97; p < 0.001) for RFS/PFS. Although statistical heterogeneity was low, interpretation was limited by the relatively small number of studies contributing to each pooled endpoint. Narrative evidence additionally suggested that broader circulating nucleic acid approaches may provide complementary information regarding graft-versus-host disease, infection, and other post-transplant complications. Tumor-specific ctDNA positivity is consistently associated with increased relapse risk and inferior survival outcomes following HCT. These findings support further investigation of ctDNA-based MRD monitoring as a promising non-invasive biomarker for post-transplant molecular surveillance and risk stratification. However, prospective multicenter validation studies, assay standardization, and ctDNA-guided interventional trials remain necessary before routine clinical implementation can be recommended. Full article

(This article belongs to the Special Issue Molecular Diagnostics and Therapeutic Advances in Hematology: From Mechanisms to Clinical Applications)

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