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Hematologic Diseases: Molecular Insights and Novel Methods

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 July 2025 | Viewed by 2390

Special Issue Editors


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Guest Editor
Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, 40138 Bologna, Italy
Interests: acute myeloid leukemia; hypoxic bone marrow microenvironment; targeted therapy

Special Issue Information

Dear Colleagues,

Novel technologies and tools like single-cell DNA, RNA and protein sequencing (or combinations thereof), spatial omics, 3D genomics, etc. are greatly empowering the way we can investigate the biology of hematologic malignancies, deep diving into their complexity with unprecedented resolution. This enables to better dissect disease pathogenesis, to uncover novel mechanisms of resistance to targeted agents and immunotherapies, to identify therapeutic targets and to enable the implementation of novel algorithms of risk stratification and prognostication. Routine diagnostics is also undergoing a deep technological revolution, with next-generation sequencing, digital PCR, next-generation flow cytometry and other novel tools supplanting the traditional methods of genetic and genomic characterization and measurable residual disease monitoring. We encourage you to submit your research manuscripts and reviews dealing with exciting new advances in the molecular characterization and molecular testing of hematologic malignancies to this Special Issue.

Dr. Simona Soverini
Dr. Samantha Bruno
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.

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Keywords

  • hematologic malignancies
  • high-throughput technologies
  • omics data
  • biomarkers
  • drug resistance
  • minimal residual disease

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Published Papers (1 paper)

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Research

15 pages, 2075 KiB  
Article
Tracking Response and Resistance in Acute Myeloid Leukemia through Single-Cell DNA Sequencing Helps Uncover New Therapeutic Targets
by Samantha Bruno, Enrica Borsi, Agnese Patuelli, Lorenza Bandini, Manuela Mancini, Dorian Forte, Jacopo Nanni, Martina Barone, Alessandra Grassi, Gianluca Cristiano, Claudia Venturi, Valentina Robustelli, Giulia Atzeni, Cristina Mosca, Sara De Santis, Cecilia Monaldi, Andrea Poletti, Carolina Terragna, Antonio Curti, Michele Cavo, Simona Soverini and Emanuela Ottavianiadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2024, 25(18), 10002; https://doi.org/10.3390/ijms251810002 - 17 Sep 2024
Cited by 2 | Viewed by 1903
Abstract
Acute myeloid leukemia (AML) is an aggressive hematologic neoplasia with a complex polyclonal architecture. Among driver lesions, those involving the FLT3 gene represent the most frequent mutations identified at diagnosis. The development of tyrosine kinase inhibitors (TKIs) has improved the clinical outcomes of [...] Read more.
Acute myeloid leukemia (AML) is an aggressive hematologic neoplasia with a complex polyclonal architecture. Among driver lesions, those involving the FLT3 gene represent the most frequent mutations identified at diagnosis. The development of tyrosine kinase inhibitors (TKIs) has improved the clinical outcomes of FLT3-mutated patients (Pt). However, overcoming resistance to these drugs remains a challenge. To unravel the molecular mechanisms underlying therapy resistance and clonal selection, we conducted a longitudinal analysis using a single-cell DNA sequencing approach (MissionBioTapestri® platform, San Francisco, CA, USA) in two patients with FLT3-mutated AML. To this end, samples were collected at the time of diagnosis, during TKI therapy, and at relapse or complete remission. For Pt #1, disease resistance was associated with clonal expansion of minor clones, and 2nd line TKI therapy with gilteritinib provided a proliferative advantage to the clones carrying NRAS and KIT mutations, thereby responsible for relapse. In Pt #2, clonal architecture was less complex, and 1st line TKI therapy with midostaurin was able to eradicate the leukemic clones. Our results corroborate previous findings about clonal selection driven by TKIs, highlighting the importance of a deeper characterization of individual clonal architectures for choosing the best treatment plan for personalized approaches aimed at optimizing outcomes. Full article
(This article belongs to the Special Issue Hematologic Diseases: Molecular Insights and Novel Methods)
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