Overview

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

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 +

Chronic Myelomonocytic Leukemia +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Acute Leukemia +

Burkitt Lymphoma +

Myeloproliferative Neoplasm +

Myelofibrosis +

Mantle Cell Lymphoma +

Primary Myelofibrosis +

Anaplastic Large Cell Lymphoma +

Follicular Lymphoma +

Marginal Zone Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Prolymphocytic Leukemia +

Juvenile Myelomonocytic Leukemia +

Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Diffuse Large B-Cell Lymphoma +

Lymphoplasmacytic Lymphoma +

Lymphoblastic Lymphoma +

Secondary Acute Myeloid Leukemia +

Secondary Myelofibrosis +

Small Lymphocytic Lymphoma +

Acute Undifferentiated Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Double-Hit Lymphoma +

Plasma Cell Leukemia +

Refractory Anemia With Excess Blasts +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Myelofibrosis Transformation In Essential Thrombocythemia +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

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 +

Hematopoietic And Lymphoid Malignancy +

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

Mediastinal Large B-Cell Lymphoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

Secondary Myelodysplastic Syndrome +

T-Cell Prolymphocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Malignant Solid Tumor +

Acute Bilineal Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

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 +

Histiocytic And Dendritic Cell Neoplasm +

Intravascular Large B-Cell Lymphoma +

Large B-Cell Lymphoma With IRF4 Rearrangement +

Lymphomatoid Granulomatosis +

Mature B-Cell Lymphoma/Leukemia +

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

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Myeloma +

Neuroblastoma +

Plasma Cell Neoplasm +

Plasmablastic Lymphoma +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

Primary Effusion Lymphoma +

Rhabdomyosarcoma +

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.