aimed to assess hematological diseases next-generation sequencing (NGS) panel enhances the diagnosis and classification of myeloid neoplasms (MN) using the 5th edition of the WHO Classification of Hematolymphoid Tumors (WHO-HAEM5) and the International Consensus Classification (ICC) of Myeloid Tumors....
We evaluated the applicability of a gene panel for the detection of AML mutations in a diagnostic molecular pathology laboratory. Fifty patient samples comprising 46 AML and 4 other myeloid neoplasms were accrued for the study. They consisted of 19 males and 31 females at a median age of 60...
We reviewed all previously diagnosed PV who had NGS myeloid panel performed to determine whether patients with a clinical diagnosis of JAK2 negative PV had other myeloid mutations that might explain their erythrocytosis and alter their management. Methods: We identified all cases with clinically ...
BioGPT Apricitabine is an oral prodrug of 5-aza-2 ’-deoxycytidine (5-aza-CdR), a DNA methyltransferase (DNMT) inhibitor, which has been approved by the US Food and Drug Administration (FDA) for the treatment of myelodysplastic syndrome (MDS) and acu...
Validation of the AML panel was performed using a positive sample containing 22 mutations, which was prepared by mixing PBMC DNA from a healthy donor, Horizon Myeloid DNA Reference Standard, and 3 synthetic DNA templates (Supplementary Note3.1). The expected VAF was between 0.001% and 0.1%; 16...
The classical model of theBCR-ABL1fusion involves a reciprocal translocation of the q arms of chromosomes 9 and 22 (Philadelphia chromosome)38. However, this mechanism alone does not explain the copy number amplification ofBCR-ABL1fusion commonly observed in chronic myeloid leukemia (CML), highligh...
As indicated by the gray area, Seamless NGS can detect the CBFB-MYH11 fusion in the Archer® FusionPlex® Myeloid data down to a dilution of 1:104, whereas previous analysis methods from the same data allowed only detection levels of 1:103....
myeloid neoplasmsnext-generation sequencingThis study aimed to assess hematological diseases next-generation sequencing (NGS) panel enhances the diagnosis and classification of myeloid neoplasms (MN) using the 5th edition of the WHO Classification of Hematolymphoid Tumors (WHO-HAEM5) and the International...
PF657 USE OF A NGS MYELOID PANEL TO FIND CLONALITY IN TRIPLE NEGATIVE ESSENTIAL THROMBOCYTHEMIA. IDENTIFICATION OF NEW MUTATIONS IN DRIVER GENESdoi:10.1097/01.HS9.0000560912.07350.70G. Carreo-TarragonaN. LópezGutiérrez X. López de Ocariz
The panel included 11 genes that were most commonly mutated in myeloid malignancies. This panel was designed to sequence the complete genome of CALR, IDH1, IDH2, JAK2, FLT3, NPM1, MPL, TET2, SF3B1, TP53, and MLL.Results: Among the 15 patients, 14 actual pathogenic variants ...