Publications by authors named "Ayami Yoshimi-Noellke"
Histopathology
November 2024
Article Synopsis
- Researchers found that tandem-duplications of the UBTF gene are linked to severe types of acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) in young patients, who typically do not respond well to standard treatments.
- The study examined 14 pediatric MDS patients and discovered distinctive bone marrow changes, including hypercellularity, significant dysplasia, and unique features like increased micromegakaryocytes and abnormal erythropoiesis.
- These findings suggest that identifying UBTF mutations through genetic tests can enhance understanding of the disease and help develop better treatment strategies for affected children.
Article Synopsis
- * The most common subtype of MDS in children with SAMD9/9L mutations is refractory cytopenia, with various genetic abnormalities and immune dysfunction observed among patients, but clinical outcomes seem unaffected by these mutations.
- * A significant portion (61%) of patients experienced somatic genetic rescue (SGR), which leads to changes in blood cell production, showcasing the adaptability of hematopoiesis in pediatric cases.
