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Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous group of myeloid neoplasms showing deregulated blood cell production with evidence of myeloid dysplasia and a predisposition to acute myeloid leukaemia, whose pathogenesis is only incompletely understood. Here we report whole-exome sequencing of 29 myelodysplasia specimens,(More)
Contemporary treatment of pediatric acute myeloid leukemia (AML) requires the assignment of patients to specific risk groups. To explore whether expression profiling of leukemic blasts could accurately distinguish between the known risk groups of AML, we analyzed 130 pediatric and 20 adult AML diagnostic bone marrow or peripheral blood samples using the(More)
Acquired uniparental disomy (aUPD) is a common feature of cancer genomes, leading to loss of heterozygosity. aUPD is associated not only with loss-of-function mutations of tumour suppressor genes, but also with gain-of-function mutations of proto-oncogenes. Here we show unique gain-of-function mutations of the C-CBL (also known as CBL) tumour suppressor(More)
Here we report whole-exome sequencing of individuals with various myeloid malignancies and identify recurrent somatic mutations in SETBP1, consistent with a recent report on atypical chronic myeloid leukemia (aCML). Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in(More)
Past experiments of the popular Affymetrix (Affy) microarrays have accumulated a huge amount of public data sets. To apply them for more wide studies, the comparability across generations and experimental environments is an important research topic. This paper particularly investigates the issue of cross-generation/laboratory predictions. That is, whether(More)
PURPOSE Idiopathic hypereosinophilia syndrome (iHES) is classically defined as prolonged peripheral eosinophilia and multiple organ involvement. The involvement of the heart can lead to intraventricular thrombus because of infiltration of the endomyocardium by eosinophils. Cerebral infarction has been ascribed to thromboembolic events originating from(More)
We report a case of polycythemia vera with chorea in which the brain metabolism and dopamine system were investigated using 2-[(18)F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) and (99m)Tc-labeled tropane dopamine transporter ((99m)Tc-TRODAT-1) single photon emission computed tomography (SPECT). Along with normalization of the hematocrit(More)
Acquired uniparental disomy (aUPD) is a common feature of cancer genomes, leading to loss of heterozygosity (LOH). aUPD is associated not only with loss-of-function mutations of tumor suppressor genes 1 but also with gain-of-function mutations of proto-oncogenes 2. Here we show unique gain-of-function mutations of C-CBL (also known as CBL) tumor suppressor(More)
The mutational profiles of acute myeloid leukemia (AML) with partial tandem duplication of mixed-lineage leukemia gene (MLL-PTD) have not been comprehensively studied. We studied 19 gene mutations for 98 patients with MLL-PTD AML to determine the mutation frequency and clinical correlations. MLL-PTD was screened by reverse-transcriptase PCR and confirmed by(More)
The diagnosis of ch ronic lymphocytic leukemia (CLL) presenting with ascites is predominantly based on the morphological and immunophenotypic characteristics, which are comparable to peripheral blood and bone marrow cells. However, it is relatively difficult to diagnose CLL due to the pleomorphism of the lymphocytes in ascites. The current study presents an(More)