Overview

Location [1]
15q24.1
Protein [2]
Protein PML
Synonyms [1]
MYL, PP8675, TRIM19, RNF71

Promyelocytic leukemia (PML) is a gene that encodes a protein that functions as a transcription factor and tumor repressor in nuclear bodies. The protein also regulates the p53 response to oncogenic signals. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as bone cancer, intestinal cancer, and stomach cancer.

PML is altered in 1.24% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, melanoma, and acute myeloid leukemia having the greatest prevalence of alterations [3].

PML GENIE Cases - Top Diseases

The most common alterations in PML are PML-RARA Fusion (0.14%), PML Fusion (0.08%), PML G461A (0.08%), PML E27fs (0.11%), and PML P41A (0.04%) [3].

PML GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PML in Diseases

Acute Promyelocytic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

Mantle Cell Lymphoma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

Chronic Myelomonocytic Leukemia +

Multiple Myeloma +

Myelodysplastic/Myeloproliferative Neoplasm +

Myeloproliferative Neoplasm +

Refractory Anemia With Excess Blasts +

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.