Matches in SemOpenAlex for { <https://semopenalex.org/work/W2564658546> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W2564658546 abstract "Abstract Approximately three-quarters of pediatric acute lymphoblastic leukemia (ALL) cases harbor recurrent, prognostically significant chromosomal abnormalities which affect assignment of risk group and therapeutic regimen, but these abnormalities occur far less often in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in Janus kinase 2 (JAK2) were reported to occur uniquely in DS ALL, affecting 18% of patients (Bercovich et al, in press). Here we report the identification and clinical correlates of JAK2 mutations in an independent cohort of cases. We sequenced JAK2 exon 16 and identified mutations in 10 of 53 DS ALL cases (18.9%). All were heterozygous point mutations affecting arginine 683 (Table 1). No JAK2 mutations were identified in the 25 available paired germline DS samples, including five germline samples associated with JAK2 mutated ALL cases, indicating that mutations were somatic in these cases. Eight of the JAK2 mutations (80%) occurred in males (p<0.03), whereas the full cohort contained 24 males (45%). No significant correlation was observed between JAK2 mutation status and age, initial white blood count (WBC), or 5-year event-free survival or overall survival. Our results confirm the 18% prevalence of JAK2 mutations at arginine 683 in DS ALL, but differ from the prior report in finding a male predominance of JAK2 mutations, and no association with age or initial WBC, differences which may be attributable to sample size. These results confirm that activation of the JAK-STAT pathway via a specific JAK2 mutation occurs in approximately one-fifth of cases of DS ALL. Sequence Amino acid Cases (n) AGA (wild-type) Arginine 43 GGA Glycine 6 AGT Serine 2 AGC Serine 1 ACA Threonine 1 Table 1. JAK2 mutation status in pediatric DS ALL" @default.
- W2564658546 created "2017-01-06" @default.
- W2564658546 creator A5010578315 @default.
- W2564658546 creator A5026358643 @default.
- W2564658546 creator A5028969570 @default.
- W2564658546 creator A5051981929 @default.
- W2564658546 creator A5059949668 @default.
- W2564658546 creator A5074034025 @default.
- W2564658546 creator A5074877143 @default.
- W2564658546 creator A5085010022 @default.
- W2564658546 date "2008-11-16" @default.
- W2564658546 modified "2023-09-27" @default.
- W2564658546 title "Prevalence and Clinical Correlates of JAK2 Mutations in Pediatric Down Syndrome Acute Lymphoblastic Leukemia." @default.
- W2564658546 doi "https://doi.org/10.1182/blood.v112.11.1506.1506" @default.
- W2564658546 hasPublicationYear "2008" @default.
- W2564658546 type Work @default.
- W2564658546 sameAs 2564658546 @default.
- W2564658546 citedByCount "1" @default.
- W2564658546 crossrefType "journal-article" @default.
- W2564658546 hasAuthorship W2564658546A5010578315 @default.
- W2564658546 hasAuthorship W2564658546A5026358643 @default.
- W2564658546 hasAuthorship W2564658546A5028969570 @default.
- W2564658546 hasAuthorship W2564658546A5051981929 @default.
- W2564658546 hasAuthorship W2564658546A5059949668 @default.
- W2564658546 hasAuthorship W2564658546A5074034025 @default.
- W2564658546 hasAuthorship W2564658546A5074877143 @default.
- W2564658546 hasAuthorship W2564658546A5085010022 @default.
- W2564658546 hasConcept C104317684 @default.
- W2564658546 hasConcept C109825262 @default.
- W2564658546 hasConcept C126322002 @default.
- W2564658546 hasConcept C13514818 @default.
- W2564658546 hasConcept C143998085 @default.
- W2564658546 hasConcept C170493617 @default.
- W2564658546 hasConcept C176944494 @default.
- W2564658546 hasConcept C32465701 @default.
- W2564658546 hasConcept C501734568 @default.
- W2564658546 hasConcept C54355233 @default.
- W2564658546 hasConcept C71924100 @default.
- W2564658546 hasConcept C86803240 @default.
- W2564658546 hasConcept C90924648 @default.
- W2564658546 hasConceptScore W2564658546C104317684 @default.
- W2564658546 hasConceptScore W2564658546C109825262 @default.
- W2564658546 hasConceptScore W2564658546C126322002 @default.
- W2564658546 hasConceptScore W2564658546C13514818 @default.
- W2564658546 hasConceptScore W2564658546C143998085 @default.
- W2564658546 hasConceptScore W2564658546C170493617 @default.
- W2564658546 hasConceptScore W2564658546C176944494 @default.
- W2564658546 hasConceptScore W2564658546C32465701 @default.
- W2564658546 hasConceptScore W2564658546C501734568 @default.
- W2564658546 hasConceptScore W2564658546C54355233 @default.
- W2564658546 hasConceptScore W2564658546C71924100 @default.
- W2564658546 hasConceptScore W2564658546C86803240 @default.
- W2564658546 hasConceptScore W2564658546C90924648 @default.
- W2564658546 hasLocation W25646585461 @default.
- W2564658546 hasOpenAccess W2564658546 @default.
- W2564658546 hasPrimaryLocation W25646585461 @default.
- W2564658546 hasRelatedWork W2298758105 @default.
- W2564658546 hasRelatedWork W2367494789 @default.
- W2564658546 hasRelatedWork W2478478681 @default.
- W2564658546 hasRelatedWork W2525050062 @default.
- W2564658546 hasRelatedWork W2530100286 @default.
- W2564658546 hasRelatedWork W2548746657 @default.
- W2564658546 hasRelatedWork W2550059784 @default.
- W2564658546 hasRelatedWork W2553561355 @default.
- W2564658546 hasRelatedWork W2557044755 @default.
- W2564658546 hasRelatedWork W2559547090 @default.
- W2564658546 hasRelatedWork W2581651020 @default.
- W2564658546 hasRelatedWork W2582147383 @default.
- W2564658546 hasRelatedWork W2582393110 @default.
- W2564658546 hasRelatedWork W2594462294 @default.
- W2564658546 hasRelatedWork W2594889430 @default.
- W2564658546 hasRelatedWork W2611597462 @default.
- W2564658546 hasRelatedWork W2683037870 @default.
- W2564658546 hasRelatedWork W2983952431 @default.
- W2564658546 hasRelatedWork W2994511930 @default.
- W2564658546 hasRelatedWork W3199805964 @default.
- W2564658546 isParatext "false" @default.
- W2564658546 isRetracted "false" @default.
- W2564658546 magId "2564658546" @default.
- W2564658546 workType "article" @default.