Table of Contents
Overview
PIM1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
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Mutation pattern and selective pressure estimates
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aSHM regions
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PIM1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 37138406 | G>A | D19N |
| chr6 | 37138419 | C>G | T23S |
| chr6 | 37138423 | G>C | K24N |
| chr6 | 37138423 | G>T | K24N |
| chr6 | 37138427 | G>A | A26T |
| chr6 | 37138430 | C>A | P27T |
| chr6 | 37138549 | G>A | G28D |
| chr6 | 37138554 | G>A | E30K |
| chr6 | 37138560 | G>A | E32K |
| chr6 | 37138563 | C>T | P33S |
| chr6 | 37138566 | C>G | L34V |
| chr6 | 37138573 | C>T | S36L |
| chr6 | 37138576 | AG>TA | Q37L |
| chr6 | 37138577 | G>C | Q37H |
| chr6 | 37138583 | G>C | Q39H |
| chr6 | 37138593 | C>G | L43V |
| chr6 | 37138596 | C>A | L44M |
| chr6 | 37138596 | C>G | L44V |
| chr6 | 37138603 | GCG>- | G48del |
| chr6 | 37138604 | C>A | S46R |
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Expression
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References
1.
Burkhardt B, Michgehl U, Rohde J, Erdmann T,
Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S,
Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N,
Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J,
Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von
Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau
M, Lenz G. Clinical relevance of molecular characteristics in
Burkitt lymphoma differs according to age. Nat Commun. 2022
Jul 6;13(1):3881. PMCID: PMC9259584
2.
Duns
G, Viganò E, Ennishi D, Sarkozy C, Hung SS, Chavez E, Takata K, Rushton
C, Jiang A, Ben-Neriah S, Woolcock BW, Slack GW, Hsi ED, Craig JW,
Hilton LK, Shah SP, Farinha P, Mottok A, Gascoyne RD, Morin RD, Savage
KJ, Scott DW, Steidl C. Characterization of
DLBCL with a PMBL gene expression
signature. Blood. 2021 Jul 15;138(2):136–148.
3.
Pasqualucci L, Neumeister P, Goossens T,
Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R. Hypermutation of multiple
proto-oncogenes in B-cell diffuse large-cell
lymphomas. Nature. 2001 Jul 19;412(6844):341–346.

