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Molecular Pathology Research on Blood Tumors
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Molecular Pathology Research on Blood Tumors

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 January 2025 | Viewed by 1836

Special Issue Editor

Dr. Luca Roncati

E-Mail Website
Guest Editor
1. Department of Surgery, Medicine, Dentistry and Morphological Sciences with Interest in Transplantation, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy
2. Department of Laboratory Medicine and Anatomical Pathology, University Hospital of Modena—Polyclinic, Modena, Italy
Interests: pathology oncology gynecology; human papilloma virus (HPV); epstein–barr virus (EBV); human herpes virus 8 (HHV8); coronavirus disease 2019 (COVID-19); severe acute respiratory syndrome (SARS); middle east respiratory syndrome (MERS); nipah virus ebola virus
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The World Health Organization (WHO)’s medical advances contribute to updating the famous WHO Blue Books, a series of 15 books that classify up to 300 tumor histotypes according to their definition, code, synonyms, epidemiology, localization, clinical features, etiology, macroscopy, microscopy, cytochemistry, immunophenotype, ultrastructure, genetics, prognostic factors, and predictive factors. Among these tumors, there are undoubtably those belonging to the hematopoietic and lymphoid tissues, which constitute the pathological basis of modern oncohematology. In 2022, the WHO Blue Book of hematolymphoid neoplasms has undergone a significant revision by an editorial board that was mostly composed of histopathologists and molecular pathologists, which was inserted in the fifth edition of the WHO classification for hematolymphoid tumors. The main purpose of this Special Issue is to focus, on a molecular level, on research on all these blood tumors.

Dr. Luca Roncati
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 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

  • molecular pathology
  • molecular tumor board
  • blood tumors
  • leukemia
  • myeloma
  • lymphoma
  • next-generation sequencing
  • precision oncology
  • targeted therapy
  • personalized medicine

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Published Papers (2 papers)

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15 pages, 2823 KiB  
Article
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications
by Francesca Guijarro, Sandra Castaño-Díez, Carlos Jiménez-Vicente, Marta Garrote, José Ramón Álamo, Marta Gómez-Hernando, Irene López-Oreja, Jordi Morata, Mònica López-Guerra, Cristina López, Sílvia Beà, Dolors Costa, Dolors Colomer, Marina Díaz-Beyá, Maria Rozman and Jordi Esteve
Int. J. Mol. Sci. 2024, 25(16), 8669; https://doi.org/10.3390/ijms25168669 - 8 Aug 2024
Viewed by 640
Abstract
Two new diagnostic classifications of acute myeloid leukemia (AML) were published in 2022 to update current knowledge on disease biology. In previous 2017-edition categories of AML with myelodysplasia-related changes, AML was not otherwise specified, but AML with mutated RUNX1 experienced profound changes. We [...] Read more.
Two new diagnostic classifications of acute myeloid leukemia (AML) were published in 2022 to update current knowledge on disease biology. In previous 2017-edition categories of AML with myelodysplasia-related changes, AML was not otherwise specified, but AML with mutated RUNX1 experienced profound changes. We performed whole exome sequencing on a cohort of 69 patients with cytogenetic intermediate-risk AML that belonged to these diagnostic categories to correlate their mutational pattern and copy-number alterations with their new diagnostic distribution. Our results show that 45% of patients changed their diagnostic category, being AML myelodysplasia-related the most enlarged, mainly due to a high frequency of myelodysplasia-related mutations (58% of patients). These showed a good correlation with multilineage dysplasia and/or myelodysplastic syndrome history, but at the same time, 21% of de novo patients without dysplasia also presented them. RUNX1 was the most frequently mutated gene, with a high co-occurrence rate with other myelodysplasia-related mutations. We found a high prevalence of copy-neutral loss of heterozygosity, frequently inducing a homozygous state in particular mutated genes. Mild differences in current classifications explain the diagnostic disparity in 10% of patients, claiming a forthcoming unified classification. Full article
(This article belongs to the Special Issue Molecular Pathology Research on Blood Tumors)
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Review

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23 pages, 1634 KiB  
Review
Clinical Implications of Isocitrate Dehydrogenase Mutations and Targeted Treatment of Acute Myeloid Leukemia with Mutant Isocitrate Dehydrogenase Inhibitors—Recent Advances, Challenges and Future Prospects
by Adrian Kowalczyk, Julia Zarychta, Monika Lejman, Eryk Latoch and Joanna Zawitkowska
Int. J. Mol. Sci. 2024, 25(14), 7916; https://doi.org/10.3390/ijms25147916 - 19 Jul 2024
Viewed by 747
Abstract
Despite the better understanding of the molecular mechanisms contributing to the pathogenesis of acute myeloid leukemia (AML) and improved patient survival in recent years, AML therapy still remains a clinical challenge. For this reason, it is important to search for new therapies that [...] Read more.
Despite the better understanding of the molecular mechanisms contributing to the pathogenesis of acute myeloid leukemia (AML) and improved patient survival in recent years, AML therapy still remains a clinical challenge. For this reason, it is important to search for new therapies that will enable the achievement of remission. Recently, the Food and Drug Administration approved three mutant IDH (mIDH) inhibitors for the treatment of AML. However, the use of mIDH inhibitors in monotherapy usually leads to the development of resistance and the subsequent recurrence of the cancer, despite the initial effectiveness of the therapy. A complete understanding of the mechanisms by which IDH mutations influence the development of leukemia, as well as the processes that enable resistance to mIDH inhibitors, may significantly improve the efficacy of this therapy through the use of an appropriate synergistic approach. The aim of this literature review is to present the role of IDH1/IDH2 mutations in the pathogenesis of AML and the results of clinical trials using mIDH1/IDH2 inhibitors in AML and to discuss the challenges related to the use of mIDH1/IDH2 inhibitors in practice and future prospects related to the potential methods of overcoming resistance to these agents. Full article
(This article belongs to the Special Issue Molecular Pathology Research on Blood Tumors)
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