ASXL1 Mutation

CI-VAR-00002646Explore in graph →CIViC 177

Curated evidence

Evidence by cancer (7 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–7 of 7 evidence items across 3 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Acute Myeloid Leukemia5
ASXL1 Mutation	(prognostic)	Prognostic	B	Supports Poor Outcome	2	accepted	EID449 In patients with acute myeloid leukemia, in a univariate analysis those with mutations in ASXL1 had worse overall survival than wild-type. PMID 25412851 · Ohgami et al., 2015 · Open in CIViC	civic
ASXL1 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID450 Among patients with AML, those with mutations in ASXL1 were more likely to have the AML with myelodysplasia-related changes (AML-MRC) subtype. PMID 25412851 · Ohgami et al., 2015 · Open in CIViC	civic
ASXL1 Mutation	(prognostic)	Prognostic	B

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Myelodysplastic Syndrome1
ASXL1 Mutation	(prognostic)	Prognostic	B	Supports Poor Outcome	3	submitted	EID6942 In a study of 439 patients with myelodysplastic syndrome, patients with ASXL1 mutations (N=63) had worse overall survival than wildtype patients (N=376) (P=0.003 univariate). This difference was also … (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC	civic

Primary Myelofibrosis1
ASXL1 Mutation	(prognostic)	Prognostic	B	Supports Poor Outcome	3	accepted	EID1508 An ASXL1 mutation, especially in conjunction with DNMT3A and EZH2 mutations, results in a fourfold increase in resistance to treatment with ruxolitinib and a reduced time to treatment discontinuation … (full text at CIViC) PMID 26124496 · Patel et al., 2015 · Open in CIViC	civic