Overview

Variant Type
Fusion
Genes
MLLT4 and KMT2A

Significance of KMT2A-MLLT4 Fusion in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Primary Myelofibrosis +

Hodgkin Lymphoma +

Myelofibrosis +

Myelofibrosis Transformation In Essential Thrombocythemia +

Non-Hodgkin Lymphoma +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Chronic Lymphocytic Leukemia +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Chronic Myelomonocytic Leukemia +

Burkitt Lymphoma +

Myeloproliferative Neoplasm +

Secondary Myelofibrosis +

Acute Leukemia +

Anaplastic Large Cell Lymphoma +

Juvenile Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Lymphoma +

Small Lymphocytic Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

B-Cell Non-Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Undifferentiated Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Burkitt Leukemia +

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

Mature T-Cell And NK-Cell Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Plasma Cell Leukemia +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Aplastic Anemia +

Atypical Burkitt/Burkitt-Like 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 +

Desmoplastic Small Round Cell Tumor +

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

Diffuse Large B-Cell Lymphoma Associated With Chronic Inflammation +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

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

EBV-Positive Mucocutaneous Ulcer +

Essential Thrombocythemia +

Ewing Sarcoma +

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

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

Hematopoietic And Lymphoid Malignancy +

High Grade B-Cell Lymphoma, Not Otherwise Specified +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Intravascular Large B-Cell Lymphoma +

Lymphomatoid Granulomatosis +

Malignant Solid Tumor +

Mature B-Cell Lymphoma/Leukemia +

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

Myelodysplastic Syndrome With Excess Blasts-1 +

Myeloid Sarcoma +

Neuroblastoma +

Overt Primary Myelofibrosis +

Peripheral T-Cell Lymphoma +

Plasma Cell Neoplasm +

Plasmablastic Lymphoma +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

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

Primary Effusion Lymphoma +

Refractory Anemia +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Non-Hodgkin Lymphoma +

T-Cell Prolymphocytic Leukemia +

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

Therapy-Related Acute Myeloid Leukemia +

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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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