Overview

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

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 4.46% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, melanoma, breast carcinoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

KMT2A GENIE Cases - Top Diseases

The most common alterations in KMT2A are KMT2A Loss (0.08%), KMT2A P773Rfs*8 (0.07%), KMT2A S774Vfs*12 (0.06%), KMT2A Amplification (0.05%), and KMT2A A53V (0.03%) [3].

KMT2A GENIE Cases - Top Alterations

Significance of KMT2A in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Burkitt Lymphoma +

Acute Leukemia +

Chronic Myelomonocytic Leukemia +

Myeloproliferative Neoplasm +

Chronic Lymphocytic Leukemia +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Follicular Lymphoma +

Myelofibrosis +

Anaplastic Large Cell Lymphoma +

Lymphoma +

Prolymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Lymphoplasmacytic Lymphoma +

Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Mixed Phenotype Acute Leukemia +

Plasma Cell Leukemia +

Primary Myelofibrosis +

Refractory Anemia With Excess Blasts +

Malignant Solid Tumor +

Acute Leukemia Of Ambiguous Lineage +

Acute Undifferentiated Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

Acute Promyelocytic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Burkitt Leukemia +

Hematopoietic And Lymphoid Malignancy +

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

Mature T-Cell And NK-Cell Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

Secondary Myelofibrosis +

T-Cell Acute Lymphoblastic Leukemia +

Rhabdomyosarcoma +

Neuroblastoma +

Hepatocellular Carcinoma +

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

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Adult Acute Lymphoblastic Leukemia +

Aggressive Non-Hodgkin Lymphoma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

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

B-Cell Prolymphocytic Leukemia +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Desmoplastic Small Round Cell Tumor +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Ewing Sarcoma +

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

Lymphomatoid Granulomatosis +

Mature B-Cell Lymphoma/Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

Primary Effusion Lymphoma +

Secondary Acute Myeloid Leukemia +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Prolymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

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

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.