Overview

Location [1]
6q27
Synonyms [1]
AF6, MLL-AF6

Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog; Drosophila); translocated to, 4 (MLLT4; also known as AF6) is a gene that encodes a nectin- and actin-filament binding protein that functions as a component of an adhesion system and connects nectin to the actin cytoskeleton. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

MLLT4 is altered in 1.83% of all cancers with breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

MLLT4 GENIE Cases - Top Diseases

The most common alterations in MLLT4 are MLLT4 Amplification (0.10%) and MLLT4 Loss (0.02%) [3].

MLLT4 GENIE Cases - Top Alterations

Significance of MLLT4 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Myelofibrosis +

Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

Multiple Myeloma +

Primary Myelofibrosis +

Acute Biphenotypic Leukemia +

Chronic Myelomonocytic Leukemia +

Burkitt Lymphoma +

Myelofibrosis Transformation In Essential Thrombocythemia +

Myeloproliferative Neoplasm +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Anaplastic Large Cell Lymphoma +

Juvenile Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Acute Leukemia +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Myelofibrosis +

Small Lymphocytic Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Prolymphocytic Leukemia +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Refractory Anemia With Excess Blasts +

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 +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Plasma Cell Leukemia +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Malignant Solid Tumor +

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 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, 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 +

Lymphomatoid Granulomatosis +

Mature B-Cell Lymphoma/Leukemia +

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

Myelodysplastic Syndrome With Excess Blasts-2 +

Myeloid Sarcoma +

Neuroblastoma +

Peripheral T-Cell Lymphoma +

Plasma Cell Neoplasm +

Plasmablastic Lymphoma +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

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 +

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.