Publications by authors named "I Ambaglio"
Article Synopsis
- Unexplained blood cytopenias, especially anemia, are common in older adults, and their link to myeloid neoplasms like myelodysplastic syndromes is not well understood.
- A study analyzed 683 patients with unexplained cytopenia and found that 435 had mutations in specific genes linked to myeloid malignancies; certain mutation patterns indicated a high likelihood of neoplasm presence.
- The research suggests that testing for somatic mutations in blood cells could enhance the diagnosis of myeloid neoplasms and help predict the risk of developing these conditions in patients with unexplained cytopenia.
In myelodysplastic syndrome (MDS), vascular endothelial growth factor (VEGF) may have regulatory effects on the hematopoietic system and contribute to disease progression. We analyzed by immunocytochemistry VEGF expression in bone marrow (BM) cells from 188 patients with MDS and 96 non-hemopathic subjects. We also measured VEGF BM plasma levels and in vitro VEGF release.
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- Chronic myelomonocytic leukemia (CMML) is a complex blood cancer with varying outcomes, and researchers have developed a prognostic scoring system (CPSS) based on clinical factors and genetics to predict patient outcomes.
- A study involving sequencing of 38 genes revealed that a high percentage of CMML patients have somatic mutations, which contribute significantly to the variability in disease characteristics and survival rates.
- The new clinical/molecular model (CPSS-Mol), which combines genetic factors, blood count data, and treatment needs, effectively categorizes patients into risk groups with distinct survival outcomes and can guide clinical decisions and future research.
Article Synopsis
- Patients with transfusion-dependent myelodysplastic syndromes (MDS) face a higher risk of heart problems due to ongoing anemia and excess iron in the body.
- The text discusses a specific case where a patient with MDS experienced heart failure caused by iron overload.
- After undergoing intensive iron chelation therapy, the patient's cardiac function improved significantly.
Purpose Of Review: This article will review the most recent advances in the understanding of the genetic basis of myeloid neoplasms with myelodysplasia and will discuss its clinical implications.
Recent Findings: Recurrent somatic mutations have been identified in about 90% of patients with myeloid neoplasms with myelodysplasia, involving genes of RNA splicing, DNA methylation, histone modification, transcription regulation, DNA repair, signal transduction, and cohesin complex. Somatic mutations are acquired in a linear manner in a multipotent hematopoietic stem cell, resulting in a growth advantage at the stem cell level and in defective differentiation and maturation of hematopoietic precursors.