Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | High-confidence DLBCL gene | |
| 2 | Role of HIST1H3B mutations in PMBL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 22 | 0.0202 | [0.0118,0.0286] |
| DLBCL | GAMBL with Reddy | 2,088 | 42 | 0.0201 | [0.0141,0.0261] |
| DLBCL | BC | 231 | 2 | 0.0087 | [0,0.0206] |
| DLBCL | Dana-Farber | 303 | 8 | 0.0264 | [0.0083,0.0445] |
| DLBCL | NCI | 470 | 8 | 0.0170 | [0.0053,0.0287] |
| DLBCL | Reddy | 999 | 20 | 0.0200 | [0.0113,0.0287] |
| DLBCL | DLBCL_ICGC | 85 | 4 | 0.0471 | [0.002,0.0921] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 7 | 0.0227 | [0.0061,0.0392] |
| BL | GAMBL without ICGC/Zhou | 320 | 8 | 0.0246 | [0.0077,0.0416] |
| BL | GAMBL with Panea | 410 | 10 | 0.0241 | [0.0092,0.0389] |
| BL | BLGSP | 219 | 5 | 0.0228 | [0.003,0.0426] |
| BL | Zhou/ICGC | 90 | 2 | 0.0222 | [0,0.0527] |
| BL | Panea | 101 | 3 | 0.0297 | [0,0.0628] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 7 | 0.0109 | [0.0029,0.0189] |
| FL | GAMBL with Crouch | 1,189 | 17 | 0.0143 | [0.0075,0.021] |
| FL | BC | 379 | 3 | 0.0079 | [0,0.0168] |
| FL | Kalmbach | 164 | 1 | 0.0061 | [0,0.018] |
| FL | Crouch | 547 | 10 | 0.0183 | [0.0071,0.0295] |
| FL | FL_ICGC | 99 | 3 | 0.0303 | [0,0.0641] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 9.0187 | 0.000 | 1.0000 |
| FL | 1.8444 | 0.000 | 1.0000 |
| DLBCL | 0.8530 | 1.059 | 0.7937 |
HIST1H3B Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 26032045 | C>T | D82N |
| chr6 | 26032029 | C>G | S87T |
| chr6 | 26032029 | C>T | S87N |
| chr6 | 26032028 | G>C | S87R |
| chr6 | 26032021 | C>T | V90M |
| chr6 | 26032017 | A>G | M91T |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
2015-02-12 : Reichel : PMBL
References
1.
Lohr
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Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A,
Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N,
Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A,
Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A,
Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES,
Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and
prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by
whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar
6;109(10):3879–3884. PMCID: PMC3309757
2.
Reichel J, Chadburn A, Rubinstein PG,
Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G,
Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E,
Roshal M. Flow
sorting and exome sequencing reveal the oncogenome of primary
Hodgkin and Reed-Sternberg cells. Blood.
2015 Feb 12;125(7):1061–1072.


