FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2499014729> ?p ?o ?g. }

• W2499014729 abstract "Abstract Background Granulocyte colony-stimulating factor (G-CSF; CSF3) and its receptor (G-CSFR; CSF3R) control neutrophil production under basal circumstances and during episodes of bacterial infections. Mutations in a region of the CSF3R gene coding for the intracytoplasmic domain of the G-CSFR have been discovered in patients with severe congenital neutropenia (CN) and were initially suggested to be the cause of CN. Mutations in CSF3R gene are regarded as an early marker of malignant transformation in CN. Common genetic abnormalities like acquired clonal cytogenetic alterations or activating RAS mutations have also been observed to be associated with CN-related myelodysplastic syndrome(MDS)/leukemia. In adults, a frequency of CSF3R mutation was common (59%) in patients with chronic neutrophilic leukemia (CNL) and atypical (BCR-ABL1–negative) chronic myeloid leukemia (CML), whereas that was low (1%) in patients with de novo acute myeloid leukemia (AML). Sequence variants that were identified included membrane proximal mutations and a number of different frameshift or nonsense mutations that truncate the cytoplasmic tail of CSF3R. These mutations segregate within two distinct regions of CSF3R and lead to preferential downstream kinase signaling through SRC family-TNK2 or JAK kinases and differential sensitivity to kinase inhibitors. However, little is known about the incidence and prognostic values of CSF3R mutations in pediatric myeloid malignancies. Methods CSF3R mutations (exon14 and 17) in a total of 376 samples of pediatric de novo AML, 40 samples of juvenile myelomonocytic leukemia (JMML), and 20 samples of MDS were analyzed from gDNA or cDNA extracted from diagnostic bone marrow samples using direct sequencing. Moreover, we assessed whether CSF3R mutations overlap with known gene abnormalities, such as FLT3, c-KIT, NPM1 and SETBP-1. Mutational analyses of FLT3, c-KIT, NPM1 and SETBP-1 were also performed in AML samples. Results We identified a CSF3R mutation in 5 of 376 patients (1.3%) with AML, 2 frameshift mutations (E788X) and 3 missense mutations (L777F and T618I). The patients with 3 (L777F and E788X) of these 5 mutations had complex chromosomal abnormalities involved in chromosome 8 and 21 (t(8;21) and ins(21;8); AML1/ETO). The other 2 patients with missense mutations (T618I) had normal karyotype. They presented with a relatively high WBC counts of 100.6×10*9/l and 159.5×10*9/l. Although 2 of 5 these patients relapsed, all of them were salvaged successfully. Two of 5 had c-KIT mutations, while none of them had FLT3, NPM1, and SETBP-1 mutations. No mutations of CSF3R in JMML and MDS patients were found. Conclusions To our knowledge, this is the first report to describe the CSF3R mutation in a pediatric de novo AML patient. In our study, CSF3R mutation is detected in 1.3% in childhood de novo AML, which suggests the involvements of CSF3R mutations in the pathogenesis of pediatric de novo AML, JMML and MDS are extremely rare compared with those in SCN and adult CNL and atypical CML cases. Since CSF3R mutation is rare event, the prognostic values of CSF3R mutations in de novo AML are still unclear. Further data accumulation is necessary. Disclosures: No relevant conflicts of interest to declare." @default.
• W2499014729 created "2016-08-23" @default.
• W2499014729 creator A5014585158 @default.
• W2499014729 creator A5016286590 @default.
• W2499014729 creator A5019098042 @default.
• W2499014729 creator A5029932023 @default.
• W2499014729 creator A5031329064 @default.
• W2499014729 creator A5031402779 @default.
• W2499014729 creator A5031826187 @default.
• W2499014729 creator A5038334164 @default.
• W2499014729 creator A5040777714 @default.
• W2499014729 creator A5057851863 @default.
• W2499014729 creator A5064359506 @default.
• W2499014729 creator A5066995769 @default.
• W2499014729 creator A5088057360 @default.
• W2499014729 date "2013-11-15" @default.
• W2499014729 modified "2023-10-01" @default.
• W2499014729 title "CSF3R Gene Mutations In Myeloid Malignancy Of Childhood" @default.
• W2499014729 doi "https://doi.org/10.1182/blood.v122.21.1352.1352" @default.
• W2499014729 hasPublicationYear "2013" @default.
• W2499014729 type Work @default.
• W2499014729 sameAs 2499014729 @default.
• W2499014729 citedByCount "2" @default.
• W2499014729 countsByYear W24990147292014 @default.
• W2499014729 countsByYear W24990147292018 @default.
• W2499014729 crossrefType "journal-article" @default.
• W2499014729 hasAuthorship W2499014729A5014585158 @default.
• W2499014729 hasAuthorship W2499014729A5016286590 @default.
• W2499014729 hasAuthorship W2499014729A5019098042 @default.
• W2499014729 hasAuthorship W2499014729A5029932023 @default.
• W2499014729 hasAuthorship W2499014729A5031329064 @default.
• W2499014729 hasAuthorship W2499014729A5031402779 @default.
• W2499014729 hasAuthorship W2499014729A5031826187 @default.
• W2499014729 hasAuthorship W2499014729A5038334164 @default.
• W2499014729 hasAuthorship W2499014729A5040777714 @default.
• W2499014729 hasAuthorship W2499014729A5057851863 @default.
• W2499014729 hasAuthorship W2499014729A5064359506 @default.
• W2499014729 hasAuthorship W2499014729A5066995769 @default.
• W2499014729 hasAuthorship W2499014729A5088057360 @default.
• W2499014729 hasConcept C104317684 @default.
• W2499014729 hasConcept C109159458 @default.
• W2499014729 hasConcept C125418893 @default.
• W2499014729 hasConcept C203014093 @default.
• W2499014729 hasConcept C2777928532 @default.
• W2499014729 hasConcept C2778461978 @default.
• W2499014729 hasConcept C2778729363 @default.
• W2499014729 hasConcept C2779157977 @default.
• W2499014729 hasConcept C2779282312 @default.
• W2499014729 hasConcept C2780007613 @default.
• W2499014729 hasConcept C2780817109 @default.
• W2499014729 hasConcept C28328180 @default.
• W2499014729 hasConcept C2908751872 @default.
• W2499014729 hasConcept C42362537 @default.
• W2499014729 hasConcept C501734568 @default.
• W2499014729 hasConcept C502942594 @default.
• W2499014729 hasConcept C54355233 @default.
• W2499014729 hasConcept C62478195 @default.
• W2499014729 hasConcept C71924100 @default.
• W2499014729 hasConcept C86803240 @default.
• W2499014729 hasConceptScore W2499014729C104317684 @default.
• W2499014729 hasConceptScore W2499014729C109159458 @default.
• W2499014729 hasConceptScore W2499014729C125418893 @default.
• W2499014729 hasConceptScore W2499014729C203014093 @default.
• W2499014729 hasConceptScore W2499014729C2777928532 @default.
• W2499014729 hasConceptScore W2499014729C2778461978 @default.
• W2499014729 hasConceptScore W2499014729C2778729363 @default.
• W2499014729 hasConceptScore W2499014729C2779157977 @default.
• W2499014729 hasConceptScore W2499014729C2779282312 @default.
• W2499014729 hasConceptScore W2499014729C2780007613 @default.
• W2499014729 hasConceptScore W2499014729C2780817109 @default.
• W2499014729 hasConceptScore W2499014729C28328180 @default.
• W2499014729 hasConceptScore W2499014729C2908751872 @default.
• W2499014729 hasConceptScore W2499014729C42362537 @default.
• W2499014729 hasConceptScore W2499014729C501734568 @default.
• W2499014729 hasConceptScore W2499014729C502942594 @default.
• W2499014729 hasConceptScore W2499014729C54355233 @default.
• W2499014729 hasConceptScore W2499014729C62478195 @default.
• W2499014729 hasConceptScore W2499014729C71924100 @default.
• W2499014729 hasConceptScore W2499014729C86803240 @default.
• W2499014729 hasLocation W24990147291 @default.
• W2499014729 hasOpenAccess W2499014729 @default.
• W2499014729 hasPrimaryLocation W24990147291 @default.
• W2499014729 hasRelatedWork W1974799221 @default.
• W2499014729 hasRelatedWork W2029093072 @default.
• W2499014729 hasRelatedWork W2053911472 @default.
• W2499014729 hasRelatedWork W2094640639 @default.
• W2499014729 hasRelatedWork W2160123981 @default.
• W2499014729 hasRelatedWork W2464245334 @default.
• W2499014729 hasRelatedWork W2562528138 @default.
• W2499014729 hasRelatedWork W2569036602 @default.
• W2499014729 hasRelatedWork W2569107751 @default.
• W2499014729 hasRelatedWork W2572068233 @default.
• W2499014729 hasRelatedWork W2575332246 @default.
• W2499014729 hasRelatedWork W2582147383 @default.
• W2499014729 hasRelatedWork W2619473751 @default.
• W2499014729 hasRelatedWork W2808841066 @default.
• W2499014729 hasRelatedWork W2920203481 @default.
• W2499014729 hasRelatedWork W2979299614 @default.
• W2499014729 hasRelatedWork W2989123450 @default.
• W2499014729 hasRelatedWork W3150026245 @default.

• next