Gene Location [1]
Chromatin remodeling/DNA methylation
Variant Type

EZH2 Loss is present in 0.06% of AACR GENIE cases, with myelodysplastic syndromes, acute myeloid leukemia, desmoplastic small round cell tumor, leiomyosarcoma, and unknown having the greatest prevalence [4].

Top Disease Cases with EZH2 Loss

Significance of EZH2 Loss in Diseases

Malignant Solid Tumor +

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Diffuse Large B-Cell Lymphoma +

Non-Hodgkin Lymphoma +

Melanoma +

Follicular Lymphoma +

Secondary Acute Myeloid Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Malignant Peripheral Nerve Sheath Tumor +

Myelodysplastic/Myeloproliferative Neoplasm +

Sarcoma +

Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Colorectal Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Anaplastic Astrocytoma +

Bladder Carcinoma +

Epithelioid Sarcoma +

Glioblastoma +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Multiple Myeloma +

Myelofibrosis +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Plasma Cell Leukemia +

Rhabdoid Tumor +

Synovial Sarcoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +


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.