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Molecular Mechanism of Acute Myeloid Leukemia

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Special Issue Information

Dear Colleagues,

Understanding molecular pathways in Acute Myeloid Leukemia (AML) is essential for developing targeted therapies and improving patient outcomes. Recent advancements in molecular techniques have identified numerous mutations and pathways involved in AML pathogenesis. Furthermore, epigenetic alterations have been described in AML. This knowledge has paved the way for precision medicine that addresses specific genetic abnormalities. But still, many open questions remain to improve our understanding of the consequences of specific mutations or aberrant activation of oncogenic pathways.

The current special edition, “Molecular Mechanism of Acute Myeloid Leukemia”, will provide a platform for new and innovative manuscripts that advance our understanding of molecular aberrations in AML.

Prof. Dr. Walter Fiedler
Guest Editor

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Keywords

  • leukemia
  • cytokine
  • signal transduction
  • apoptosis
  • immune therapy

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Published Papers (1 paper)

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Research

25 pages, 4091 KiB  
Article
Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction
by Carmen Baldazzi, Lorenza Bandini, Valentina Robustelli, Agnese Patuelli, Claudia Venturi, Alessandra Grassi, Giulia Marzocchi, Angela Ielpo, Vincenza Solli, Maria Teresa Bochicchio, Stefania Paolini, Chiara Sartor, Federico Zingarelli, Antonio Curti, Emanuela Ottaviani and Nicoletta Testoni
Int. J. Mol. Sci. 2025, 26(3), 1162; https://doi.org/10.3390/ijms26031162 - 29 Jan 2025
Viewed by 338
Abstract
Monosomy 7 and deletion 7q are common chromosomal abnormalities in myeloid malignancies, and they are associated with a poor prognosis. The mechanism underlying their acquisition remains elusive. We identified a cohort of 24 patients exhibiting clones with different chromosome 7 abnormalities, such as [...] Read more.
Monosomy 7 and deletion 7q are common chromosomal abnormalities in myeloid malignancies, and they are associated with a poor prognosis. The mechanism underlying their acquisition remains elusive. We identified a cohort of 24 patients exhibiting clones with different chromosome 7 abnormalities, such as deletion 7q, unstable derivatives (ring chromosomes or ‘naked’ centromeres), and monosomy 7. We designated this group as having cytogenetic clonal evolution of chromosome 7 abnormalities (CCE7). In some cases, CCE7 correlated with disease progression, suggesting that deletions or other derivatives involving the q-arm of chromosome 7 may arise early in the disease course. These abnormalities may be transient but can potentially evolve into monosomy 7. Within the CCE7 group, telomere loss or shortening may contribute to chromosomal instability and the emergence of unstable derivatives, as the chromosome 7 derivatives displayed loss or rearrangement of subtelomeric regions. Moreover, we identified variants in genes implicated in telomere biology disorders and observed specific genetic mutation profiles associated with different chromosome 7 abnormalities. These findings shed light on a potential mechanism leading to monosomy 7 through the evolution of chromosome 7q abnormalities. Identifying patients at risk of developing monosomy 7, based on the presence of unstable derivatives with telomere loss or a specific mutation profile, could potentially enhance patient management and guide the development of novel therapeutic strategies. Full article
(This article belongs to the Special Issue Molecular Mechanism of Acute Myeloid Leukemia)
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