We present a unique case of a young woman with acute myeloid leukemia (AML) with complex karyotype. The presence of the t(4;11)(q23;p15) is extremely rare in myeloid leukemias, while t(4;8)(q32;q13) has not yet been described in any leukemia reference. Another interesting issue is the familial aggregation of myeloid malignancies and worse course of the disease in each subsequent generation, as well as an earlier onset of the disease. Our report emphasizes the need for thorough pedigree examination upon myeloid malignancy diagnosis as there are relatives for whom counseling, gene testing, and surveillance may be highly advisable.
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http://dx.doi.org/10.3390/medicina58010105 | DOI Listing |
Blood Cancer J
January 2025
Hospital de la Santa Creu i Sant Pau. Institut d'investigació Biomèdica Sant Pau (IIB SANT PAU) Department of Medicine, Universitat Autonoma of Barcelona, Barcelona, Spain.
Given the heterogeneity of acute myeloid leukemia patients, it is necessary to identify patients considered fit for intensive therapy but who will perform poorly, and in whom alternative approaches deserve investigation. We analyzed 1034 fit adults ≤70 years intensively treated between 2012 and 2022 in the CETLAM group. Young adults ( ≤ 60 years) presented higher remission rates and improved survival than older adults above that age (CR 79% vs.
View Article and Find Full Text PDFCancer Genet
January 2025
PhD of Hematology, Assistant Professor, Department of Medical Laboratory Sciences, School of Paramedical Sciences, Hamadan University of Medical Sciences, Hamadan, Iran. Electronic address:
Cancers (Basel)
January 2025
Hematology Unit, S. Eugenio Hospital (ASL Roma 2), 00122 Rome, Italy.
Menin (MEN1) is a well-recognized powerful tumor promoter in acute leukemias (AL) with KMT2A rearrangements (KMT2Ar, also known as MLL) and mutant nucleophosmin 1 (NPM1m) acute myeloid leukemia (AML). MEN1 is essential for sustaining leukemic transformation due to its interaction with wild-type KMT2A and KMT2A fusion proteins, leading to the dysregulation of KMT2A target genes. MEN1 inhibitors (MIs), such as revumenib, ziftomenib, and other active small molecules, represent a promising new class of therapies currently under clinical development.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, CA 92350, USA.
Acute myeloid leukemia (AML) is an aggressive malignancy that poses significant challenges due to high rates of relapse and resistance to treatment, particularly in older populations. While therapeutic advances have been made, survival outcomes remain suboptimal. The evolution of DNA and RNA sequencing technologies, including whole-genome sequencing (WGS), whole-exome sequencing (WES), and RNA sequencing (RNA-Seq), has significantly enhanced our understanding of AML at the molecular level.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
School of Medicine and Surgery, University of Milan-Bicocca, 20126 Milan, Italy.
Genetic studies of haematological cancers have pointed out the heterogeneity of leukaemia in its different subpopulations, with distinct mutations and characteristics, impacting the treatment response. Next-generation sequencing (NGS) and genome-wide analyses, as well as single-cell technologies, have offered unprecedented insights into the clonal heterogeneity within the same tumour. A key component of this heterogeneity that remains unexplored is the intracellular metabolome, a dynamic network that determines cell functions, signalling, epigenome regulation, immunity and inflammation.
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