Publications by authors named "Kosaka Fumiko"
Article Synopsis
- TP53 gene abnormalities, particularly mutations and deletions, significantly impact the prognosis in acute myeloid leukemia (AML), but most research has focused only on the DNA binding domain of the gene.* -
- In a study of 412 AML cases, TP53 mutations were found in 7.3% of patients, with some identified outside the traditionally examined DNA binding domain, indicating a broader scope of mutation potential.* -
- The presence of TP53 mutations, both in and outside the DNA binding domain, was linked to poorer overall and relapse-free survival, especially in patients aged 70 and younger without FLT3-ITD mutations, highlighting the need for comprehensive TP53 evaluation in AML treatment plans.*
In recent years, it has been reported that the frequency of DNA-methylation regulatory gene mutations - mutations of the genes that regulate gene expression through DNA methylation - is high in acute myeloid leukemia. The objective of the present study was to elucidate the clinical characteristics and prognosis of acute myeloid leukemia with associated DNA-methylation regulatory gene mutation. We studied 308 patients with acute myeloid leukemia.
View Article and Find Full Text PDFThe risk of complication of polycythemia vera (PV) and essential thrombocythemia (ET) by thrombosis in Japanese patients is clearly lower than in western populations, suggesting that genetic background such as race may influence the clinical features. This study aimed to clarify the relationship between genetic mutations and haplotypes and clinical features in Japanese patients with PV and ET. Clinical features were assessed prospectively among 74 PV and 303 ET patients.
View Article and Find Full Text PDFAs the incidence of bone-marrow failure syndromes (BMFS) is 2-3x higher in East Asia than in the West, we examined peripheral blood or marrow cells of 100 Japanese patients for possible pathogenic mutations in the two main components of the telomere-synthesizing enzyme telomerase (hTERC RNA and hTERT protein) that have recently been implicated in the disease pathogenesis. We analyzed samples collected from 34 patients with acquired aplastic anemia (AA), 66 patients with myelodysplastic syndromes (MDS) and 120 healthy controls. In addition to two polymorphic germ-line sequence changes (n-771A/G and n-714 C insertion) in the promoter region of hTERC and eleven hTERT polymorphisms that were identified in both patients and healthy individuals, we found a novel germ-line C323T mutation in the hTERC RNA in an MDS patient only.
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