MTOR
Overview
Although mutations in MTOR have been reported in DLBCL1 and some BL, their role in lymphomagenesis has not been thoroughly studied. ## History
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in BL not firmly established |
 |
1 | high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 4.62 |
| BL | Thomas cohort | 3.40 |
| BL | Panea cohort | 10.90 |
| DLBCL | GAMBL genomes | 4.02 |
| DLBCL | Schmitz cohort | 4.04 |
| DLBCL | Reddy cohort | 2.40 |
| DLBCL | Chapuy cohort | 2.14 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.204 | 0 |
| DLBCL | No | No | 5.630 | 0 |
| FL | No | No | 1.429 | 0 |
[!NOTE] First described in BL in 2019 by Panea RI. First described in DLBCL in 2013 by Zhang J
## MTOR Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 11169376 | A>T | I2500N |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
MTOR Expression
References
- Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1398-403. doi: 10.1073/pnas.1205299110. Epub 2013 Jan 4. PMID: 23292937; PMCID: PMC3557051.
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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