Gene

NPM1

nucleophosmin 1

Explore in graph →CI-GENE-00017093HGNC:7910 ENSG00000181163 NCBI 4869 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (44)

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

civicCuratedShowing 1–44 of 44 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
NPM1 EXON 11 MUTATION31
(diagnostic)	Acute Myeloid LeukemiaCURATED_BROADER	Diagnostic	A	Supports Positive	5	accepted	EID116 AML with mutated NPM1 is a provisional entity in the World Health Organization (WHO) classification of acute myeloid leukemia (AML). This mutation should be tested for in clinical trials and is recomm… (full text at CIViC) PMID 19357394 · Vardiman et al., 2009 · Open in CIViC	civic
(prognostic)	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Supports Better Outcome	5	accepted	EID176 Complete remission rates were higher (70.5% vs 54.7%, P = 0.003) and event-free survival was longer (median, 428 vs 336 days; P = 0.012) for normal karyotype AML patients (median age 60.3 years) with … (full text at CIViC)

Cohorts

Alteration frequency by cohort (26)

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

cbioportalObserved26 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Acute Myeloid Leukemia (TCGA, Firehose Legacy) laml_tcga	Acute Myeloid Leukemia	Ssm	54	197	27.4%	2

Literature

Linked publications (22)

25 per page, newest first.

pubmedPublishedShowing 1–22 of 22 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes.
· Blood · 2009 · PMID 19357394 · validated civic_curation pubmed
DNMT3A mutations in acute myeloid leukemia.
· N Engl J Med · 2010 · PMID 21067377 · validated civic_curation pubmed
Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype.
· Blood · 2005 · PMID 16076867 · validated civic_curation pubmed
The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia.
· Blood · 2008 · PMID 17957027 · validated

NPM1 MUTATION5
(diagnostic)	Acute Myeloid LeukemiaCURATED_BROADER	Diagnostic	A	Supports Positive	5	submitted	EID8596 In the the 2008 World Health Organization (WHO) classification of acute myeloid leukemia (AML), AML with mutated NPM1 was considered as a provisional entity. In the updated 2016 WHO classification , A… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC	civic
〃	Acute Myeloid Leukemia with NPM1 MutationALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12494 In this 2005 study, immunohistochemical staining was used to assess the subcellular localization of NPM in 1,835 paraffin-embedded tumor specimens, including 591 from primary AML patients (ages 15–60)… (full text at CIViC) PMID 15659725 · Falini et al., 2005 · Open in CIViC	civic
〃	Acute Myeloid Leukemia with NPM1 MutationALIAS	Diagnostic	B	Supports Positive	3	accepted	EID108 In this publication, the role of NPM1 mutations in defining a distinct subset of acute myeloid leukemia (AML) was investigated. Among 1,485 adult AML patients enrolled in the multicenter AML96 protoco… (full text at CIViC) PMID 16455956 · Thiede et al., 2006 · Open in CIViC	civic
〃	Acute Myeloid Leukemia with NPM1 MutationALIAS	Diagnostic	B	Supports Positive	3	accepted	EID12495 In this 2005 study, the authors investigated the prevalence and prognostic impact of NPM1 mutation status in 300 adult patients with AML (16-60 years of age) with normal cytogenetics. The diagnostic b… (full text at CIViC) PMID 16051734 · Döhner et al., 2005 · Open in CIViC	civic
Revumenib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	4	submitted	EID12743 Results from phase II of the AUGMENT-101 trial are reported for patients with NPM1 mutant relapsed/refractory AML (≥3 previous lines of therapy) treated with revumenib. Patients received revumenib wit… (full text at CIViC) PMID 40332046 · Arellano et al., 2025 · Open in CIViC	civic

NPM1 MUTATION5

(diagnostic)

Acute Myeloid LeukemiaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID8596

In the the 2008 World Health Organization (WHO) classification of acute myeloid leukemia (AML), AML with mutated NPM1 was considered as a provisional entity. In the updated 2016 WHO classification , A… (full text at CIViC)

PMID 27069254 · Arber et al., 2016 · Open in CIViC

civic

〃

Acute Myeloid Leukemia with NPM1 MutationALIAS

Diagnostic

Supports Positive

accepted

EID12494

In this 2005 study, immunohistochemical staining was used to assess the subcellular localization of NPM in 1,835 paraffin-embedded tumor specimens, including 591 from primary AML patients (ages 15–60)… (full text at CIViC)

PMID 15659725 · Falini et al., 2005 · Open in CIViC

civic

〃

Acute Myeloid Leukemia with NPM1 MutationALIAS

Diagnostic

Supports Positive

accepted

EID108

In this publication, the role of NPM1 mutations in defining a distinct subset of acute myeloid leukemia (AML) was investigated. Among 1,485 adult AML patients enrolled in the multicenter AML96 protoco… (full text at CIViC)

PMID 16455956 · Thiede et al., 2006 · Open in CIViC

civic

〃

Acute Myeloid Leukemia with NPM1 MutationALIAS

Diagnostic

Supports Positive

accepted

EID12495

In this 2005 study, the authors investigated the prevalence and prognostic impact of NPM1 mutation status in 300 adult patients with AML (16-60 years of age) with normal cytogenetics. The diagnostic b… (full text at CIViC)

PMID 16051734 · Döhner et al., 2005 · Open in CIViC

civic

Revumenib

Acute Myeloid LeukemiaCURATED_BROADER

Predictive

Supports Sensitivity Response

submitted

EID12743

Results from phase II of the AUGMENT-101 trial are reported for patients with NPM1 mutant relapsed/refractory AML (≥3 previous lines of therapy) treated with revumenib. Patients received revumenib wit… (full text at CIViC)

PMID 40332046 · Arellano et al., 2025 · Open in CIViC

civic

IDH1 Mutation + IDH2 Mutation + NPM1 MUTATIONIDH2 IDH1 NPM11
Revumenib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	3	submitted	EID12744 Results from phase II of the AUGMENT-101 trial are reported for patients with NPM1 mutant relapsed/refractory AML (≥3 previous lines of therapy) treated with revumenib. Patients received revumenib wit… (full text at CIViC) PMID 40332046 · Arellano et al., 2025 · Open in CIViC	civic

IDH1 Mutation + IDH2 Mutation + NPM1 MUTATIONIDH2 IDH1 NPM11

Revumenib

Acute Myeloid LeukemiaCURATED_BROADER

Predictive

Supports Sensitivity Response

submitted

EID12744

PMID 40332046 · Arellano et al., 2025 · Open in CIViC

civic

KMT2A Rearrangement + NPM1 MUTATIONNPM1 KMT2A1
Ziftomenib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	4	submitted	EID12436 The KOMET-001 Phase 1 trial evaluated the menin inhibitor ziftomenib (KO-539) in patients with relapsed or refractory acute myeloid leukemia (AML) harboring either NPM1 mutations or KMT2A rearrangemen… (full text at CIViC) PMID 39362248 · Wang et al., 2024 · Open in CIViC	civic

KMT2A Rearrangement + NPM1 MUTATIONNPM1 KMT2A1

Ziftomenib

Acute Myeloid LeukemiaCURATED_BROADER

Predictive

Supports Sensitivity Response

submitted

EID12436

The KOMET-001 Phase 1 trial evaluated the menin inhibitor ziftomenib (KO-539) in patients with relapsed or refractory acute myeloid leukemia (AML) harboring either NPM1 mutations or KMT2A rearrangemen… (full text at CIViC)

PMID 39362248 · Wang et al., 2024 · Open in CIViC

civic

NPM1 W288FS6
(diagnostic)	Acute Myeloid LeukemiaCURATED_BROADER	Diagnostic	A	Supports Positive	5	rejected	EID1510 In a study of 1,540 patients with Acute Myeloid Leukemia, 418(27%) had mutations in NPM1, mostly W288fs, and there was a preferential co-mutation with NRAS(G12/13), however there was no co-mutation as… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC	civic
(prognostic)	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Does Not Support Better Outcome	2	accepted	EID109 No NPM1 mutations were identified in patients with favorable risk cytogenetics (79/215 patients). PMID 21067377 · Ley et al., 2010 · Open in CIViC	civic
〃	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Does Not Support Better Outcome	2	rejected	EID121 NPM1 mutations were associated with intermediate risk cytogenetics (including normal karyotype). PMID 21067377 · Ley et al., 2010 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	3	submitted	EID13228 Knock-in mouse model revealed that for heterozygous (Npm1(wt/c+) mice with the c.854_857dupTCTG (mimics p.W288fs in humans), a majority of mice developed monocytosis, increased myeloid precursors, and… (full text at CIViC) PMID 23226219 · Chou et al., 2012 · Open in CIViC	civic
Cytarabine + Daunorubicin + EtoposideCombination	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	E	Supports Sensitivity Response	3	accepted	EID153 NPM1 mutation (Type A, W288fs) causes cytoplasmic localization of NPM when transfected into a non-hematopoietic cell line (293T cells). Cytoplasmic localization of NPM in AML patients was associated w… (full text at CIViC) PMID 15659725 · Falini et al., 2005 · Open in CIViC	civic
NSC348884	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	accepted	EID152 NSC348884 induced apoptosis in OPI-AML3 cells harboring an NPM1 mutation. PMID 21719597 · Balusu et al., 2011 · Open in CIViC	civic

NPM1 W288FS6

(diagnostic)

Acute Myeloid LeukemiaCURATED_BROADER

Diagnostic

Supports Positive

rejected

EID1510

In a study of 1,540 patients with Acute Myeloid Leukemia, 418(27%) had mutations in NPM1, mostly W288fs, and there was a preferential co-mutation with NRAS(G12/13), however there was no co-mutation as… (full text at CIViC)

PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC

civic

(prognostic)

Acute Myeloid LeukemiaCURATED_BROADER

Prognostic

Does Not Support Better Outcome

accepted

EID109

No NPM1 mutations were identified in patients with favorable risk cytogenetics (79/215 patients).

PMID 21067377 · Ley et al., 2010 · Open in CIViC

civic

〃

Acute Myeloid LeukemiaCURATED_BROADER

Prognostic

Does Not Support Better Outcome

rejected

EID121

NPM1 mutations were associated with intermediate risk cytogenetics (including normal karyotype).

PMID 21067377 · Ley et al., 2010 · Open in CIViC

civic

(functional)

—UNRESOLVED

Functional

Supports Loss Of Function

submitted

EID13228

Knock-in mouse model revealed that for heterozygous (Npm1(wt/c+) mice with the c.854_857dupTCTG (mimics p.W288fs in humans), a majority of mice developed monocytosis, increased myeloid precursors, and… (full text at CIViC)

PMID 23226219 · Chou et al., 2012 · Open in CIViC

civic

Cytarabine + Daunorubicin + EtoposideCombination

Acute Myeloid LeukemiaCURATED_BROADER

Predictive

Supports Sensitivity Response

accepted

EID153

NPM1 mutation (Type A, W288fs) causes cytoplasmic localization of NPM when transfected into a non-hematopoietic cell line (293T cells). Cytoplasmic localization of NPM in AML patients was associated w… (full text at CIViC)

PMID 15659725 · Falini et al., 2005 · Open in CIViC

civic

NSC348884

Acute Myeloid LeukemiaCURATED_BROADER

Predictive

Supports Sensitivity Response

accepted

EID152

NSC348884 induced apoptosis in OPI-AML3 cells harboring an NPM1 mutation.

PMID 21719597 · Balusu et al., 2011 · Open in CIViC

civic