Gene

KMT2A

lysine methyltransferase 2A

Explore in graph →CI-GENE-00007111HGNC:7132 ENSG00000118058 NCBI 4297 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (17)

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

civicCuratedShowing 1–17 of 17 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
KMT2A Amplification1
(prognostic)	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	E	Supports Poor Outcome	2	submitted

Cohorts

Alteration frequency by cohort (200)

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

cbioportalObserved200 cohort rows (showing 50, sorted by frequency) · 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
Colorectal Cancer (MSK, Cancer Discovery 2022) coadread_mskresistance_2022	Colorectal Adenocarcinoma	Ssm

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.

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
KMT2A/C mutations function as a potential predictive biomarker for immunotherapy in solid tumors.
· Biomark Res · 2020 · PMID 33298164 · validated civic_curation pubmed
The genomic landscape of pediatric acute lymphoblastic leukemia.
· Nat Genet · 2022 · PMID 36050548 · validated civic_curation pubmed
The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions.
· Nat Med · 2018 · PMID 29227476 · validated civic_curation

KMT2A Rearrangement3
(diagnostic)	B Acute Lymphoblastic LeukemiaALIAS	Diagnostic	A	Supports Positive	5	submitted	EID8601 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged, is a well- defined subgroup in the current WHO classification of hematologic malignancies. PMID 27069254 · Arber et al., 2016 · Open in CIViC	civic
(prognostic)	Acute Lymphoblastic Leukemia	Prognostic	B	Supports Poor Outcome	4	submitted	EID8600 KMT2A, also called MLL (MIXED- LINEAGE-LEUKAEMIA) gene is mapped to chromosome band 11q23, a region of recurrent rearrangements in acute leukemias. Collectively, acquired abnormalities in the 11q23 re… (full text at CIViC) PMID 12057554 · Pui et al., 2002 · Open in CIViC	civic
Menin Inhibitor + VTP50469Substitutes	Acute Leukemia	Predictive	D	Supports Sensitivity Response	5	submitted	EID7819 Patient-derived xenograft (PDX) models derived from patients with either MLL-r acute myeloid leukemia or MLL-r acute lymphoblastic leukemia (ALL) showed dramatic reductions of leukemia burden when tre… (full text at CIViC) PMID 31821784 · Krivtsov et al., 2019 · Open in CIViC	civic

KMT2A Rearrangement3

(diagnostic)

B Acute Lymphoblastic LeukemiaALIAS

Diagnostic

Supports Positive

submitted

EID8601

B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged, is a well- defined subgroup in the current WHO classification of hematologic malignancies.

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

KMT2A Fusion8
(diagnostic)	Acute Myeloid Leukemia with KMT2A RearrangementALIAS	Diagnostic	A	Supports Positive	4	accepted	EID1029 In this publication, the 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia is discussed. The MLL-MLLT3 translocation, along with other MLL tra… (full text at CIViC) PMID 19357394 · Vardiman et al., 2009 · Open in CIViC	civic
〃	Acute Myeloid Leukemia with KMT2A RearrangementALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12413 In this 2018 study the authors include 1,023 young people diagnosed with acute myeloid leukemia (AML). The age at presentation for the participants ranged from 0 to 29 years (median of 10 years). The … (full text at CIViC) PMID 29227476 · Bolouri et al., 2018 · Open in CIViC	civic
〃	Acute Myeloid Leukemia with KMT2A RearrangementALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12414 In this 2024 study the authors included patient data from 1256 children (aged less than 19 years) across 15 different countries diagnosed with KMT2A rearranged acute myeloid leukemia (AML). KMT2A rear… (full text at CIViC) PMID 38621200 · van Weelderen et al., 2024 · Open in CIViC	civic
〃	Acute Myeloid Leukemia with KMT2A RearrangementALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12415 In this 2023 publication the authors include 3401 KMT2A rearranged leukemia samples obtained from different diagnostic centers worldwide, and subject them to DNA sequence analyses. Of these patients, … (full text at CIViC) PMID 37019990 · Meyer et al., 2023 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A RearrangedALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12473 In this study, the authors used long-distance inverse PCR and sequencing to comprehensively analyze KMT2A (MLL) gene rearrangements in 2,345 acute leukemia patients, including those with B-lymphoblast… (full text at CIViC) PMID 28701730 · Meyer et al., 2018 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A RearrangedALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12474 In this publication, the authors conducted a comprehensive genomic analysis of 2,754 pediatric acute lymphoblastic leukemia (ALL) cases using integrated whole genome, exome, and transcriptome sequenci… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A RearrangedALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12475 In this publication, the diagnostic significance of KMT2A rearrangements in B-lymphoblastic leukemia/lymphoma (B-ALL) is explored. The study reveals that KMT2A fusions are not restricted to lymphoid l… (full text at CIViC) PMID 38686611 · Aypar et al., 2024 · Open in CIViC	civic
EPZ004777	Acute Biphenotypic Leukemia	Predictive	D	Supports Sensitivity Response	4	submitted	EID7582 KMT2A (MLL) gene encodes a transcriptional co-activator harboring a SET domain with H3K4 histone methyl transferase activity which mediates chromatin modifications associated with epigenetic transcrip… (full text at CIViC) PMID 21741596 · Daigle et al., 2011 · Open in CIViC	civic

KMT2A Mutation + KMT2B Mutation + KMT2C Mutation + KMT2D mutationKMT2C KMT2D KMT2A KMT2B2
Immune Checkpoint Inhibitor	Melanoma	Predictive	B	Supports Sensitivity Response	2	submitted	EID12592 In a retrospective pan-cancer analysis of four immune checkpoint therapy (ICT)–treated cohorts (melanoma n = 287; NSCLC n = 131; total n = 418), KMT2 family mutations were associated with improved ICT… (full text at CIViC) PMID 33653367 · Zhang et al., 2021 · Open in CIViC	civic
〃	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	2	submitted	EID12593 In a retrospective pan-cancer analysis of four immune checkpoint therapy (ICT)–treated cohorts (melanoma n = 287; NSCLC n = 131; total n = 418), KMT2 family mutations were associated with improved ICT… (full text at CIViC) PMID 33653367 · Zhang et al., 2021 · Open in CIViC	civic