Overview

Location [1]
11q23.3
Protein [2]
MLL cleavage product C180
Synonyms [1]
HTRX1, MLL1A, WDSTS, ALL-1, CXXC7, TRX1, MLL, MLL1, 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 4.31% of all cancers with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

KMT2A GENIE Cases - Top Diseases

The most common alterations in KMT2A are KMT2A Mutation (3.62%), KMT2A Fusion (0.13%), KMT2A Loss (0.10%), KMT2A Amplification (0.07%), and KMT2A-EP300 Fusion (0.19%) [3].

KMT2A GENIE Cases - Top Alterations

Significance of KMT2A in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Primary Myelofibrosis +

Hodgkin Lymphoma +

Myelofibrosis +

Non-Hodgkin Lymphoma +

Chronic Myelomonocytic Leukemia +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Myelofibrosis Transformation In Essential Thrombocythemia +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Chronic Lymphocytic Leukemia +

Acute Leukemia +

Myeloproliferative Neoplasm +

Burkitt Lymphoma +

Mantle Cell Lymphoma +

Secondary Acute Myeloid Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Secondary Myelofibrosis +

Anaplastic Large Cell Lymphoma +

Marginal Zone Lymphoma +

Follicular Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Juvenile Myelomonocytic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Diffuse Large B-Cell Lymphoma +

Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Mixed Phenotype Acute Leukemia +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Acute Undifferentiated Leukemia +

Double-Hit Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Small Lymphocytic Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

T-Cell Lymphoblastic Leukemia/Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Plasma Cell Leukemia +

Refractory Anemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Mature T-Cell And NK-Cell Neoplasm +

Acute Leukemia Of Ambiguous Lineage +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

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 +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-1 +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

T-Cell Prolymphocytic Leukemia +

High Grade B-Cell Lymphoma, Not Otherwise Specified +

Malignant Solid Tumor +

Secondary Myelodysplastic Syndrome +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Indolent Non-Hodgkin Lymphoma +

T-Cell And NK-Cell Neoplasm +

Plasma Cell Neoplasm +

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

T-Cell Non-Hodgkin Lymphoma +

Neuroblastoma +

Hematopoietic And Lymphoid Malignancy +

Therapy-Related Myeloid Neoplasm +

Leukemia +

Histiocytic And Dendritic Cell Neoplasm +

Myeloid Neoplasm +

Ewing Sarcoma +

Rhabdomyosarcoma +

Acute Bilineal Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aplastic Anemia +

Atypical Burkitt/Burkitt-Like Lymphoma +

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 Associated With Chronic Inflammation +

EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

EBV-Positive Mucocutaneous Ulcer +

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

HHV8-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Intravascular Large B-Cell Lymphoma +

Lymphomatoid Granulomatosis +

Mature B-Cell Lymphoma/Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Overt Primary Myelofibrosis +

Plasmablastic Lymphoma +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type +

Primary Effusion Lymphoma +

Small Lymphocytic Leukemia +

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

Therapy-Related Chronic Myelomonocytic Leukemia +

Triple-Hit Lymphoma +

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 8. 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.