Gene

DUX4

double homeobox 4

Explore in graph →CI-GENE-00044002HGNC:50800 ENSG00000260596 NCBI 100288687 Cancer geneApproved

Curated evidence

Clinical evidence (13)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–13 of 13 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
DUX4 Fusion4
(diagnostic)	CIC-Rearranged Sarcoma	Diagnostic	B	Supports Positive	4	accepted	EID9012 This study consists of a cohort of 115 patients with a class of sarcomas that had similar morphology to Ewing sarcoma. The presence of a CIC rearrangement was detected in all the cases by FISH. Previo…

Cohorts

Alteration frequency by cohort (0)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

Data not yet available

No cohort frequency recorded for this gene.

Literature

Linked publications (8)

25 per page, newest first.

pubmedPublishedShowing 1–8 of 8 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.
· Nat Genet · 2019 · PMID 30643249 · validated civic_curation pubmed
Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases.
· Am J Surg Pathol · 2017 · PMID 28346326 · validated civic_curation pubmed
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.
· Nat Genet · 2016 · PMID 27019113 · validated civic_curation pubmed
Deregulation of DUX4 and ERG in acute lymphoblastic leukemia.
· Nat Genet · 2016 · PMID 27776115 · validated civic_curation pubmed

DUX4 Fusion2
(prognostic)	Acute Lymphoblastic Leukemia	Prognostic	C	Supports Better Outcome	3	accepted	EID1277 Ph- ALL (Philadelphia chromosome negative acute lymphoblastic leukemia) gene expression profiles cluster into two main groups, Ph like and non-Ph like ALL. Non-Ph like ALL have favorable outcomes whe… (full text at CIViC) PMID 27019113 · Yasuda et al., 2016 · Open in CIViC	civic
(diagnostic)	Acute Lymphoblastic Leukemia	Diagnostic	D	Supports Positive	4	accepted	EID1276 A screen for fusion genes in Ph- AYA-ALL (Philadelphia chromosome negative acute lymphoblastic leukemia in adolescents and young adults) was performed using RNA-seq from multiple cohorts of ALL patien… (full text at CIViC) PMID 27019113 · Yasuda et al., 2016 · Open in CIViC	civic

DUX4 Fusion5
(diagnostic)	B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12248 This study identifies DUX4 rearrangements, specifically IGH::DUX4 fusions, as diagnostic markers for a distinct molecular subtype of Philadelphia chromosome-negative (Ph−) B-lymphoblastic leukemia/lym… (full text at CIViC) PMID 27019113 · Yasuda et al., 2016 · Open in CIViC	civic
〃	B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12249 This study highlights the diagnostic significance of DUX4 gene rearrangements in a distinct molecular subtype of B-lymphoblastic leukemia/lymphoma (B-ALL). Among 1,913 B-ALL cases, including 1,347 chi… (full text at CIViC) PMID 27776115 · Zhang et al., 2016 · Open in CIViC	civic
〃	B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12250 In this study, the authors analyzed the fusion gene landscape in pediatric B-lymphoblastic leukemia (B-ALL) across 195 cases using RNA sequencing. Fusion genes were identified in 127 cases (65%), incl… (full text at CIViC) PMID 27265895 · Lilljebjörn et al., 2016 · Open in CIViC	civic
〃	B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12251 This 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
(oncogenic)	B Lymphoblastic Leukemia/LymphomaCURATED_BROADER	Oncogenic	C	Supports Oncogenicity	3	submitted	EID7027 Insertion of D4Z4 repeats containing the DUX4 gene into the IGH locus was frequently identified in B cell AYA-ALL, leading to a high level of expression of DUX4 protein with an aberrant C terminus. DU… (full text at CIViC) PMID 27019113 · Yasuda et al., 2016 · Open in CIViC	civic