Search results for "ETV6"
showing 4 items of 4 documents
MYST3/NCOA2-Induced Acute Myeloid Leukemia in Transgenic Fish
2008
Abstract The MYST3/NCOA2 (MOZ/TIF2) fusion gene generated by the inv(8)(p11q13) chromosomal abnormality was described in a specific subgroup of acute myeloid leukemias (AML) that represents less than 5% of AML4/5. This abnormality fuses MYST3 (MOZ), a member of the MYST family of histone acetyl-transferases (HAT) to NCOA2 (TIF2), a member of the p160 HAT family. The transforming properties of MYST3/NCOA2 were demonstrated in mouse committed myeloid progenitors in vitro and in vivo. Hematopoiesis is very similar in zebrafish and in higher vertebrates. Homologues of a large number of genes involved in mammalian myelopoiesis were identified in this animal model. We have recently shown that nco…
Assessment of Clonal Evolution in 42 AML with NPM1 Mutations by Molecular Characterization of Paired Diagnosis and Relapse Samples
2011
Abstract Abstract 237 Mutations in the nucleophosmin 1 (NPM1) gene represent one of the most frequent gene mutations in acute myeloid leukemia (AML), in particular in cytogenetically normal (CN)-AML. NPM1 mutations (NPM1mut) are considered as an early genetic event in the pathogenesis of AML. To address the role of clonal evolution from diagnosis to relapse in NPM1mut AML, we applied high-resolution genome-wide single nucleotide polymorphism (SNP) array analysis using the Affymetrix 6.0 platform to detect copy number alterations (CNAs) and uniparental disomies (UPDs) in paired samples from 42 patients. In addition, we determined NPM1 and FLT3 [internal tandem duplication (ITD) and tyrosine …
Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia.
2013
Mutations in the nucleophosmin 1 (NPM1) gene are considered a founder event in the pathogenesis of acute myeloid leukemia (AML). To address the role of clonal evolution in relapsed NPM1-mutated (NPM1mut) AML, we applied high-resolution, genome-wide, single-nucleotide polymorphism array profiling to detect copy number alterations (CNAs) and uniparental disomies (UPDs) and performed comprehensive gene mutation screening in 53 paired bone marrow/peripheral blood samples obtained at diagnosis and relapse. At diagnosis, 15 aberrations (CNAs, n = 10; UPDs, n = 5) were identified in 13 patients (25%), whereas at relapse, 56 genomic alterations (CNAs, n = 46; UPDs, n = 10) were detected in 29 patie…
Unusual presentation of blastic plasmacytoid dendritic cell neoplasm: Pitfalls in other hematolymphoid neoplasms
2020
Abstract Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare CD4+/CD56+ hematological malignancy with aggressive clinical course and poor prognosis. Histologically, BPDCN is characterized by a diffuse, monomorphous infiltration of cutaneous, subcutaneous, and sometimes other tissues such as lymph nodes and bone marrow, by medium-sized neoplastic cells with blastoid morphology. Typically, there is absence of lymphocytic infiltrate. Diagnosis relies on immunophenotypic expression of CD4, CD56, and the more specific markers of plasmacytoid dendritic cells CD123, CD303/BDCA2, and TCL1. We report a case of a 57-year-old man who presented a 4 cm-long solitary, erythemateous lesion on t…