Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | High-confidence DLBCL gene |
 |
1 | High-confidence MZL gene |
 |
1 | High-confidence PMBL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 84 | 0.0771 | [0.0613,0.093] |
| DLBCL | GAMBL with Reddy | 2,088 | 158 | 0.0757 | [0.0643,0.087] |
| DLBCL | BC | 231 | 7 | 0.0303 | [0.0082,0.0524] |
| DLBCL | Dana-Farber | 303 | 26 | 0.0858 | [0.0543,0.1173] |
| DLBCL | NCI | 470 | 47 | 0.1000 | [0.0729,0.1271] |
| DLBCL | Reddy | 999 | 74 | 0.0741 | [0.0578,0.0903] |
| DLBCL | DLBCL_ICGC | 85 | 4 | 0.0471 | [0.002,0.0921] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 1.4394 | 0.0000 | 1 |
| FL | 1.9543 | 24.5523 | 0 |
| DLBCL | 0.8272 | 11.7906 | 0 |
SPEN Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 16256846 | C>T | R1371* |
| chr1 | 16261814 | C>T | R3027* |
Cannot include /browser_SPEN.md - does not exist yet
Expression
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2012-08-27 : Rossi : MZL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
2021-04-01 : Sarkozy : PMBL
2021-05-05 : Hubschmann : DLBCL
References
1.
Albuquerque MA, Grande BM, Ritch EJ,
Pararajalingam P, Jessa S, Krzywinski M, Grewal JK, Shah SP, Boutros PC,
Morin RD. Enhancing knowledge discovery from cancer genomics data with
Galaxy. Gigascience. 2017 May 1;6(5):1–13. PMCID: PMC5437943
2.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love
CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg
ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W,
Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y,
Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O,
Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB,
Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava
G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn
A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T,
Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional
Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017
Oct;171(2):481–494.e15. PMCID: PMC5659841
3.
Rossi D, Trifonov V, Fangazio M, Bruscaggin A,
Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C,
Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A,
Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R,
Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti
F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R,
Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome
of splenic marginal zone lymphoma: Activation of NOTCH2 and
other pathways regulating marginal zone development. J Exp Med. 2012 Aug
27;209(9):1537–1551. PMCID: PMC3428941
4.
Sarkozy C, Hung SS, Chavez EA, Duns G, Takata
K, Chong LC, Aoki T, Jiang A, Miyata-Takata T, Telenius A, Slack GW,
Molina TJ, Ben-Neriah S, Farinha P, Dartigues P, Damotte D, Mottok A,
Salles GA, Casasnovas RO, Savage KJ, Laurent C, Scott DW,
Traverse-Glehen A, Steidl C. Mutational landscape of
gray zone lymphoma. Blood. 2021 Apr 1;137(13):1765–1776.
5.
Schmitz R, Wright GW, Huang DW, Johnson CA,
Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson
DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC,
Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald
A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard
JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S,
Wilson WH, Staudt LM. Genetics and Pathogenesis of
Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr
12;378(15):1396–1407. PMCID: PMC6010183
