FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2465644576> ?p ?o ?g. }

• W2465644576 abstract "Abstract Rationale Myelodysplastic syndromes (MDS) are clonal stem cell disorders that disrupt orderly maturation of multiple hematopoietic lineages. Several studies have suggested that maturation of precursor B cells (hematogones) is also abnormal in MDS. As a result, the presence of normal numbers or increased precursor B cells in bone marrow (BM) is frequently used as a diagnostic feature arguing against a diagnosis of MDS. We compared the presence of myeloid-associated gene mutations and myeloid maturation abnormalities with qualitative and quantitative precursor B cell findings in BM samples submitted for workup of cytopenias or MDS. Methods Seventeen BM aspirate samples with <5% blasts submitted for cytopenia or MDS evaluation were compared with 10 samples having 5% or more blasts and changes diagnostic of MDS or AML. Mutation analysis was performed on genomic DNA using a targeted exome sequencing assay. This assay employs a TruSeq custom amplicon design on the MiSeq platform (Illumina, San Diego, CA). The assay covers the commonly mutated areas of 19 myeloid-associated genes. Somatic mutation status was assigned based on mutation levels, previous association with myeloid neoplasia, and no prior identification in public or internal databases as a normal sequence variant. Flow cytometry using 6-color (CD19/CD34) and 8-color (CD19/10) formats was used to assess lymphoblasts; CD34/13 was used to assess myeloblasts; and CD11b, CD13, CD16, and CD38 were used to assess abnormalities in myelopoiesis. Results Among the 17 BM samples submitted for cytopenia or MDS evaluation that had <5% blasts, 7 (41%) had immunophenotypic myeloid maturation abnormalities. Ten (59%) of the 17 cases had at least one myeloid-associated somatic mutation, with TET2 and ASXL1being the most commonly mutated genes. The ratio of myeloblasts to B-lymphoblasts, calculated using either CD10 or CD19, was >10:1 in 10/17 (59%) cases. Nine of the 17 (53%) cases had virtually no precursor B cells detected. Discrete abnormalities in more mature myeloid forms were seen in 7/10 (70%) cases with low numbers of B-lymphoblasts but in none of the 7 cases with significant numbers of B-lymphoblasts. MDS-associated mutations were more common in cases with rare B-lymphoblasts (7/9) than in those with higher percentages of precursor B cells (3/8), but the difference did not reach statistical significance (P = 0.15). Genes mutated in the group with B-lymphoblasts present included ASXL1 (3 cases), DNMT3A (2), TET2 (1) and TP53 (2). Two of these mutated cases presented with isolated thrombocytopenia. By comparison, myeloblast/lymphoblast ratios were >50:1 in all 10 unequivocal MDS/AML samples (>5% blasts); 8 (80%) of these cases had MDS-associated mutations, and 4 (50%) had mutations in multiple genes. Conclusions Decreases in BM precursor B cells in cases of possible low-grade MDS were usually, but not always, associated with the presence of MDS-associated mutations. However, cases with normal or increased precursor B cell numbers also showed MDS-associated mutations although immunophenotypic evidence of myeloid maturation abnormalities was not seen in this group. The identification of a subgroup of cytopenic patients with likely pathogenic mutations in bone marrow precursors but minimal phenotypic evidence of myeloid dysplasia may indicate clonal abnormalities primarily located outside the granulocyte or common stem precursor populations, e.g. restricted to the megakaryocytic lineage. Therefore, the presence of intact precursor lymphoblast and myeloid maturation by higher-dimensional flow cytometry as a primary criterion to argue against a diagnosis of low-grade MDS needs further evaluation, especially when granulocytopenia is absent. Disclosures: No relevant conflicts of interest to declare." @default.
• W2465644576 created "2016-07-22" @default.
• W2465644576 creator A5003620789 @default.
• W2465644576 creator A5005293963 @default.
• W2465644576 creator A5022968414 @default.
• W2465644576 creator A5035537034 @default.
• W2465644576 creator A5039392910 @default.
• W2465644576 creator A5045340321 @default.
• W2465644576 creator A5060193841 @default.
• W2465644576 creator A5075155239 @default.
• W2465644576 date "2013-11-15" @default.
• W2465644576 modified "2023-09-27" @default.
• W2465644576 title "Impaired Precursor B-Cell Maturation/Production In The Bone Marrow: Association With Molecular and Immunophenotypic Markers Of Myeloid Dysplasia In Suspected Low-Grade MDS" @default.
• W2465644576 doi "https://doi.org/10.1182/blood.v122.21.4943.4943" @default.
• W2465644576 hasPublicationYear "2013" @default.
• W2465644576 type Work @default.
• W2465644576 sameAs 2465644576 @default.
• W2465644576 citedByCount "0" @default.
• W2465644576 crossrefType "journal-article" @default.
• W2465644576 hasAuthorship W2465644576A5003620789 @default.
• W2465644576 hasAuthorship W2465644576A5005293963 @default.
• W2465644576 hasAuthorship W2465644576A5022968414 @default.
• W2465644576 hasAuthorship W2465644576A5035537034 @default.
• W2465644576 hasAuthorship W2465644576A5039392910 @default.
• W2465644576 hasAuthorship W2465644576A5045340321 @default.
• W2465644576 hasAuthorship W2465644576A5060193841 @default.
• W2465644576 hasAuthorship W2465644576A5075155239 @default.
• W2465644576 hasConcept C10205521 @default.
• W2465644576 hasConcept C104317684 @default.
• W2465644576 hasConcept C109159458 @default.
• W2465644576 hasConcept C196166836 @default.
• W2465644576 hasConcept C203014093 @default.
• W2465644576 hasConcept C2779282312 @default.
• W2465644576 hasConcept C2780007613 @default.
• W2465644576 hasConcept C2780189214 @default.
• W2465644576 hasConcept C2780366003 @default.
• W2465644576 hasConcept C2780817109 @default.
• W2465644576 hasConcept C28328180 @default.
• W2465644576 hasConcept C30481170 @default.
• W2465644576 hasConcept C502942594 @default.
• W2465644576 hasConcept C53226629 @default.
• W2465644576 hasConcept C54355233 @default.
• W2465644576 hasConcept C553184892 @default.
• W2465644576 hasConcept C71924100 @default.
• W2465644576 hasConcept C86803240 @default.
• W2465644576 hasConcept C95862172 @default.
• W2465644576 hasConceptScore W2465644576C10205521 @default.
• W2465644576 hasConceptScore W2465644576C104317684 @default.
• W2465644576 hasConceptScore W2465644576C109159458 @default.
• W2465644576 hasConceptScore W2465644576C196166836 @default.
• W2465644576 hasConceptScore W2465644576C203014093 @default.
• W2465644576 hasConceptScore W2465644576C2779282312 @default.
• W2465644576 hasConceptScore W2465644576C2780007613 @default.
• W2465644576 hasConceptScore W2465644576C2780189214 @default.
• W2465644576 hasConceptScore W2465644576C2780366003 @default.
• W2465644576 hasConceptScore W2465644576C2780817109 @default.
• W2465644576 hasConceptScore W2465644576C28328180 @default.
• W2465644576 hasConceptScore W2465644576C30481170 @default.
• W2465644576 hasConceptScore W2465644576C502942594 @default.
• W2465644576 hasConceptScore W2465644576C53226629 @default.
• W2465644576 hasConceptScore W2465644576C54355233 @default.
• W2465644576 hasConceptScore W2465644576C553184892 @default.
• W2465644576 hasConceptScore W2465644576C71924100 @default.
• W2465644576 hasConceptScore W2465644576C86803240 @default.
• W2465644576 hasConceptScore W2465644576C95862172 @default.
• W2465644576 hasLocation W24656445761 @default.
• W2465644576 hasOpenAccess W2465644576 @default.
• W2465644576 hasPrimaryLocation W24656445761 @default.
• W2465644576 hasRelatedWork W2013112095 @default.
• W2465644576 hasRelatedWork W2058559522 @default.
• W2465644576 hasRelatedWork W2282165815 @default.
• W2465644576 hasRelatedWork W2522223147 @default.
• W2465644576 hasRelatedWork W2535248475 @default.
• W2465644576 hasRelatedWork W2550084043 @default.
• W2465644576 hasRelatedWork W2552876428 @default.
• W2465644576 hasRelatedWork W2564755196 @default.
• W2465644576 hasRelatedWork W2576674947 @default.
• W2465644576 hasRelatedWork W2588703660 @default.
• W2465644576 hasRelatedWork W2590631360 @default.
• W2465644576 hasRelatedWork W2594519931 @default.
• W2465644576 hasRelatedWork W2598094178 @default.
• W2465644576 hasRelatedWork W2607452256 @default.
• W2465644576 hasRelatedWork W2975245102 @default.
• W2465644576 hasRelatedWork W2979940565 @default.
• W2465644576 hasRelatedWork W2980824909 @default.
• W2465644576 hasRelatedWork W2991773900 @default.
• W2465644576 hasRelatedWork W3212544759 @default.
• W2465644576 hasRelatedWork W46121641 @default.
• W2465644576 isParatext "false" @default.
• W2465644576 isRetracted "false" @default.
• W2465644576 magId "2465644576" @default.
• W2465644576 workType "article" @default.