PML
Primary Author(s)*
Brian Davis PhD
Synonyms
"Promyelocytic Leukemia"; "Tripartite Motif-Containing Protein 19"; TRIM19; "RING Finger Protein 71"; RNF71; MYL
Genomic Location
Cytoband: 15q24.1
Genomic Coordinates:
chr15:74,287,014-74,340,160(GRCh37/hg19)
chr15:73,994,673-74,047,819(GRCh38/hg38)
Cancer Category/Type
Acute Promyelocytic Leukemia (APL)
(90% to 95%) of the cases, APL results from a t (15;17) (q22;q21) translocation resulting in the head to tail fusion of the promyelocytic leukemia (PML) gene, to RAR-alpha to generate two fusion genes, PML-RARalpha and a reciprocal RAR-alpha-PML (80%) that encode a protein, which functions as an aberrant retinoid receptor [3].
Gene Overview
localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL).
Common Alteration Types
Put your text here and/or fill in the table with an X where applicable
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X |
Internal Pages
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EXAMPLE Germline Cancer Predisposition Genes
External Links
Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.
EXAMPLES
PML by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
PML by COSMIC - sequence information, expression, catalogue of mutations
PML-RARA by CIViC - general knowledge and evidence-based variant specific information
PML by St. Jude ProteinPaint mutational landscape and matched expression data.
PML by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
PML by Cancer Index - gene, pathway, publication information matched to cancer type
PML by My Cancer Genome - brief gene overview
PML by UniProt - protein and molecular structure and function
PML by Pfam - gene and protein structure and function information
PML by GeneCards - general gene information and summaries
"PML" by NCBI Gene - general gene information and summaries
References
1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
2. Hsu, K.S. and Kao, H.Y. (2018). PML: Regulation and multifaceted function beyond tumor suppression. Cell. Bioscience 8: 5. PMID 29416846 PMCID: PMC5785837 DOI: 10.1186/s13578-018-0204-8.
3. Cingam, S. R. and Koshy, N.V. (2017). Cancer, Leukemia, Promyelocytic, Acute (APL, APML). https://www.ncbi.nlm.nih.gov/books/NBK459352/
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.