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Cancers
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Diagnosis and Treatment of Myeloid Neoplasms
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Diagnosis and Treatment of Myeloid Neoplasms

A special issue of Cancers (ISSN 2072-6694).

Deadline for manuscript submissions: 27 November 2026 | Viewed by 119

Editor

Dr. Laura Cicconi

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Guest Editor
Department of Hematology, University Polo Pontino, Santa Maria Goretti Hospital, 04100 Latina, Italy
Interests: myeloid neoplasms; leukemia

Special Issue Information

Dear Colleagues,

Myeloid neoplasms comprise a heterogeneous group of clonal hematologic malignancies arising from dysregulated proliferation and differentiation of myeloid progenitors. Advances in genomic profiling have reshaped modern World Health Organization and the International Consensus classifications, defining specific entities including acute myeloid leukemia, myelodysplastic syndromes, myeloproliferative neoplasms, myelodysplastic/myeloproliferative neoplasms and other overlap categories by integrating morphologic, cytogenetic, and molecular features to refine diagnosis and prognostication.

This Special Issue highlights recent progress in understanding disease biology, emphasizing the role of recurrent mutations and clonal evolution in defining clinical phenotypes and therapeutic vulnerabilities. It also includes current diagnostic approaches, including next-generation sequencing technologies, alongside evolving risk stratification models.

Progress in genetic classification has been paralleled at the therapeutic level by the introduction of targeted agents, used alone or in combination with standard intensive chemotherapy or hypomethylating agents, tailored to molecular subgroups. Meanwhile, allogeneic hematopoietic stem cell transplantation remains the only curative strategy for many high-risk patients. Together, these contributions underscore ongoing efforts to translate molecular insights into improved outcomes and more individualized care for patients with myeloid neoplasms.

Dr. Laura Cicconi
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 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. Cancers is an international peer-reviewed open access semimonthly 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 2900 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

  • myeloid neoplasms
  • diagnostic approaches
  • prognostication
  • heterogeneous

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Published Papers (1 paper)

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Review

19 pages, 1259 KB  
Review
Systemic Mastocytosis: Molecular Pathophysiology, WHO Diagnostic Framework, and KIT-Directed Targeted Therapies
by Caterina Alati, Maria Bruna Greve, Gaetana Porto, Giorgia Policastro, Erica Bilardi, Giovanna Utano, Laura Giordano, Martina Pitea and Massimo Martino
Cancers 2026, 18(14), 2205; https://doi.org/10.3390/cancers18142205 - 8 Jul 2026
Abstract
Background: Systemic mastocytosis (SM) is a clonal mast cell (MC) neoplasm driven by somatically acquired activating mutations in the KIT receptor tyrosine kinase (CD117), resulting in pathological accumulation of morphologically atypical MCs in extracutaneous organs. The KIT D816V substitution is detectable in over [...] Read more.
Background: Systemic mastocytosis (SM) is a clonal mast cell (MC) neoplasm driven by somatically acquired activating mutations in the KIT receptor tyrosine kinase (CD117), resulting in pathological accumulation of morphologically atypical MCs in extracutaneous organs. The KIT D816V substitution is detectable in over 95% of cases by high-sensitivity next-generation sequencing (NGS) or allele-specific PCR. This gain-of-function variant confers ligand-independent receptor autophosphorylation, leading to constitutive activation of downstream signaling cascades that promote MC progenitor survival, clonal expansion, and resistance to apoptosis. Co-occurring somatic mutations in TET2, SRSF2, ASXL1, CBL, and RUNX1, increasingly identified in the context of clonal hematopoiesis of indeterminate potential, are associated with more aggressive phenotypes and independently confer adverse prognostic impact. Results: The 2022 WHO classification delineates indolent forms from advanced-phase SM, aggressive SM, SM with an associated hematologic neoplasm (SM-AHN), and MC leukemia, which produce progressive end-organ damage through both neoplastic tissue infiltration and uncontrolled mediator release. Formal diagnosis requires integration of histological criteria (multifocal bone marrow MC aggregates of ≥15 cells), immunophenotypic aberrancies (CD25, CD2, and/or CD30 coexpression on MCs by flow cytometry or immunohistochemistry), biochemical markers (baseline serum tryptase ≥ 20 ng/mL), and molecular confirmation of KIT D816V or equivalent pathogenic KIT mutation. The development of type I KIT inhibitors with selectivity for the D816V-mutant conformation has fundamentally restructured the therapeutic field of advanced SM. Conclusions: This review provides a thorough synthesis of SM pathobiology, WHO-defined diagnostic and classification criteria, validated prognostic tools, and the developing landscape of KIT-directed and combination therapies, with direct translational relevance for specialist practitioners managing this heterogeneous myeloid neoplasm. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Myeloid Neoplasms)
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