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Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid Leukemia.
Ann Lab Med
March 2025
School of Biomedical Sciences, The University of Western Australia, Crawley, Australia.
Chromosomes 5 and 7 are large chromosomes that contain close to 1,000 genes each. Deletions of the long arms or loss of the entire chromosome (monosomy) are common defects in myeloid disorders, particularly MDS and AML. Loss of material from either chromosome 5 or 7 results in haploinsufficiency of multiple genes, with some implicated in leukemogenesis.
View Article and Find Full Text PDFGenome sequencing in the management of myelodysplastic syndromes and related disorders.
Haematologica
February 2025
Department of Molecular Medicine, University of Pavia, and Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia.
Article Synopsis
- * Significant research has reshaped the understanding of MDS, uncovering key mutations in important genes and helping categorize the disease into distinct types based on these genetic changes.
- * Advances in genomic profiling and the Molecular International Prognostic Scoring System (IPSS-M) are enhancing diagnosis and treatment personalization, emphasizing the need for collaborative efforts in healthcare and research.
Spontaneous Regression of Coronary Artery Fistula in 5q-Syndrome.
Circ J
August 2024
Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine.
-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.
Genes (Basel)
July 2023
Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome).
View Article and Find Full Text PDFWhy do we not have more drugs approved for MDS? A critical viewpoint on novel drug development in MDS.
Blood Rev
July 2023
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. Electronic address:
Approval of new agents to treat higher risk (HR) myelodysplastic syndrome (MDS) has stalled since the approval of DNA methyltransferase inhibitors (DNMTi). In addition, the options for patients with lower risk (LR) MDS who have high transfusion needs and do not harbor ring sideroblasts or 5q- syndrome are limited. Here, we review the current treatment landscape in MDS and identify areas of unmet need, such as treatment after failure of erythropoiesis-stimulating agents or DNMTis, TP53-mutated disease, and MDS with potentially targetable mutations.
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