Overview

Location [1]
11q23.3
Protein [2]
MLL cleavage product C180
Synonyms [1]
CXXC7, MLL1, MLL1A, MLL, ALL-1, HTRX1, WDSTS, TRX1, HRX

Lysine (K)-specific methyltransferase 2A (KMT2A; also known as MLL) is a gene that encodes a protein that functions as a transcriptional coactivator. The protein is involved in cellular processes including the regulation of gene expression and hematopoiesis. Fusions, rearrangements, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

KMT2A is altered in 0.17% of all cancers with breast invasive ductal carcinoma and invasive breast carcinoma having the greatest prevalence of alterations [3].

KMT2A GENIE Cases - Top Diseases

The most common alterations in KMT2A are KMT2A Loss (0.08%), KMT2A Amplification (0.05%), KMT2A Insertion (0.02%), KMT2A G68dup (0.01%), and KMT2A A66_A67dup (0.00%) [3].

KMT2A GENIE Cases - Top Alterations

Significance of KMT2A in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

Myelofibrosis +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myelomonocytic Leukemia +

Primary Myelofibrosis +

Acute Leukemia +

Burkitt Lymphoma +

Myeloproliferative Neoplasm +

Mantle Cell Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Secondary Acute Myeloid Leukemia +

Anaplastic Large Cell Lymphoma +

Myelofibrosis Transformation In Essential Thrombocythemia +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Marginal Zone Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Diffuse Large B-Cell Lymphoma +

Lymphoma +

Mixed Phenotype Acute Leukemia +

Prolymphocytic Leukemia +

Secondary Myelofibrosis +

Therapy-Related Acute Myeloid Leukemia +

Acute Undifferentiated Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Refractory Anemia With Excess Blasts +

Small Lymphocytic Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Therapy-Related Myelodysplastic Syndrome +

Plasma Cell Leukemia +

Refractory Anemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Prolymphocytic Leukemia +

Burkitt Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

T-Cell Prolymphocytic Leukemia +

Malignant Solid Tumor +

Acute Bilineal Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aplastic Anemia +

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +

Desmoplastic Small Round Cell Tumor +

Diffuse Large B-Cell Lymphoma Activated B-Cell Type +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

EBV-Positive Mucocutaneous Ulcer +

Ewing Sarcoma +

Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma +

Hematopoietic And Lymphoid Malignancy +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Intravascular Large B-Cell Lymphoma +

Large B-Cell Lymphoma With IRF4 Rearrangement +

Leukemia +

Lymphomatoid Granulomatosis +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Neoplasm +

Myeloid Sarcoma +

Neuroblastoma +

Plasma Cell Neoplasm +

Plasmablastic Lymphoma +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

Primary Effusion Lymphoma +

Refractory Anemia With Excess Blasts-1 +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Non-Hodgkin Lymphoma +

T-Cell And NK-Cell Neoplasm +

T-Cell/Histiocyte-Rich Large B-Cell Lymphoma +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.