Publication
PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (7)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 7
- cancerB Acute Lymphoblastic Leukemia with DUX4 Rearrangementcivic_curation1.00
- cancerB Acute Lymphoblastic Leukemia with PAX5 P80R Mutationcivic_curation1.00
- geneDUX4civic_curation1.00
- genePAX5civic_curation1.00
- variantDUX4 Fusioncivic_curation1.00
- variantPAX5 Fusioncivic_curation1.00
- variantPAX5 P80Rcivic_curation1.00
Curated evidence
Evidence citing this paper (5)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 30643249
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| DUX4 Fusion + DUX4 Fusion1 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID11523Integrated genomic analysis of was performed for 1,988 childhood and adult B-ALL cases. 106 cases (5.3%) showed DUX4 rearrangements, commonly with the IGH region. These cases were characterized by a u… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |
| DUX4 Fusion1 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12251This study highlights the diagnostic significance of DUX4 rearrangements in identifying a distinct molecular subtype of B-lymphoblastic leukemia/lymphoma (B-ALL). Using transcriptome sequencing of 1,9… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |
| PAX5 P80R2 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID7291Integrated genomic analysis was performed for 1,988 childhood and adult B-ALL cases. Forty four cases (2.2%) showed the P80R substitution in the DNA binding domain for the PAX5 transcription factor ge… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |
| (oncogenic) | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Oncogenic | D | Supports Oncogenicity | 4 | submitted | EID11522To examine the effects of PAX5 P80R on B cell maturation, PAX5 WT, P80R, V26G, and P34Q were expressed in Pax5 depleted bone marrow cells. While PAX5 V26G and PAX5 P34Q could rescue B cell differentia… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |
| PAX5 Fusion1 | ||||||||
| (diagnostic) | B-lymphoblastic Leukemia With PAX5altUNRESOLVED | Diagnostic | B | Supports Positive | 5 | accepted | EID12867This landmark study provided revised classification of B-lymphoblastic leukemia (B-ALL) based on integrated genomic findings from 1,988 childhood and adult B-ALLs. All cases were subjected to RNA-seq … (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |