MTOR

Overview

Although mutations in MTOR have been reported in DLBCL¹ and some BL, their role in lymphomagenesis has not been thoroughly studied.

Relevance tier by entity

Entity	Tier	Description
BL	2	relevance in BL not firmly established
DLBCL	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

1. 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.