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Genome sequencing in the management of myelodysplastic syndromes and related disorders.
Haematologica
October 2024
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.
View Article and Find Full Text PDFSuspected Immune Thrombocytopenic Purpura Induced by Lenalidomide for the Treatment of Myelodysplastic Syndrome with Deletion of Chromosome 5q: A Case Report.
Tohoku J Exp Med
January 2023
Division of Hematology and Rheumatology, Tohoku Medical and Pharmaceutical University Hospital.
Lenalidomide (LEN), one of the key drugs in the treatment of myelodysplastic syndromes (MDS) with 5q deletion, as well as multiple myeloma (MM), has various immunomodulatory effects and has been associated with autoimmune diseases, including immune thrombocytopenic purpura (ITP). A 78-year-old man presented with pancytopenia and was diagnosed with MDS with 5q deletion and other chromosomal abnormalities. Two cycles of LEN therapy (one cycle: 10 mg/day for 21 days) resulted in a transient improvement in anemia, followed by MDS progression with severe thrombocytopenia (4 × 10/L) refractory to platelet transfusions.
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