Details of gene mutations in FL patients carrying STAT6 mutations
FL Patient No. . | Disease status . | STAT6 cDNA . | STAT6 . | CREBBP . | MLL2 . | TNFRSF14 . | EZH2 . | MEF2B . | HIST1H1 B-E . | ARID1A . | TP53 . | OCT2 . |
---|---|---|---|---|---|---|---|---|---|---|---|---|
ML055 | Relapsed | c.1114 G>G/A | p.372 E>E/K | p.1472 W>W/S p.1103 R>R/X | p.3789fs | p.112 S>F | p.641 Y>Y/N | wt | wt | wt | wt | wt |
L053 | Relapsed | c.1129 G>G/A | p.377 E>E/K | p.1446 R>R/C | p.3681 Q>Q/X; p.Leu 925fs | wt | wt | wt | HIST1H1-D p.102A>A/V | wt | wt | wt |
FL25 | Unknown | c.1129 G>G/A | p.377 E>E/K | p.200 Q>X | wt | p.12 W>W/X p.69 E>E/X | wt | wt | wt | wt | wt | wt |
L026 | Untreated | c.1255 G>G/C | p.419 D>D/H | Exon 28 splice donor mutation | p.3988 Q>Q/X | wt | wt | wt | wt | wt | wt | wt |
FL31 | Unknown | c.1255 G>G/C | p.419 D>D/H | p.1543 D>D/V | p.3395 Q>Q/X | p.1 M>I | p.641 Y>Y/F | wt | wt | wt | wt | wt |
FL38 | Unknown | c.1255 G>G/C | p.419 D>D/H | p.1502 W>R | wt | p.158 Q>X | wt | wt | wt | wt | wt | wt |
FL22 | Unknown | c.1256 A>A/C | p.419 D>D/A | p.1499 L>L/P | Exon 15 splice donor mutation | wt | wt | wt | wt | wt | wt | wt |
ML064 | Untreated | c.1256 A>A/G | p.419 D>D/G | p.1421 C>C/F; p.482 Q>Q/X | wt | wt | wt | wt | HIST1H1-D p.84G>D | wt | wt | wt |
L084 | Relapsed | c.1256 A>A/G | p.419 D>D/G | p.1446 R>L | wt | wt | wt | wt | wt | wt | p.262 G>V | wt |
L046 | Untreated | c.1256 A>A/G | p.419 D>D/G | p.1446 R>C | wt | p.3fs | wt | wt | HIST1H1-D p.82K>K/D | wt | wt | p.223T>T/S |
L054 | Relapsed | c.1256 A>A/G; c.1928 C>C/T | p.419 D>D/G; p.643 P>P/L | p.S1680* | p.2970 S>S/N | p.96 C>X | p.641 Y>Y/N | wt | wt | wt | wt | wt |
L097 | Untreated | c.1568 A>A/T | p.523 D>D/V | p.1484 F>F/S | p.2685 R>R/X | wt | wt | wt | wt | wt | wt | wt |
FL Patient No. . | Disease status . | STAT6 cDNA . | STAT6 . | CREBBP . | MLL2 . | TNFRSF14 . | EZH2 . | MEF2B . | HIST1H1 B-E . | ARID1A . | TP53 . | OCT2 . |
---|---|---|---|---|---|---|---|---|---|---|---|---|
ML055 | Relapsed | c.1114 G>G/A | p.372 E>E/K | p.1472 W>W/S p.1103 R>R/X | p.3789fs | p.112 S>F | p.641 Y>Y/N | wt | wt | wt | wt | wt |
L053 | Relapsed | c.1129 G>G/A | p.377 E>E/K | p.1446 R>R/C | p.3681 Q>Q/X; p.Leu 925fs | wt | wt | wt | HIST1H1-D p.102A>A/V | wt | wt | wt |
FL25 | Unknown | c.1129 G>G/A | p.377 E>E/K | p.200 Q>X | wt | p.12 W>W/X p.69 E>E/X | wt | wt | wt | wt | wt | wt |
L026 | Untreated | c.1255 G>G/C | p.419 D>D/H | Exon 28 splice donor mutation | p.3988 Q>Q/X | wt | wt | wt | wt | wt | wt | wt |
FL31 | Unknown | c.1255 G>G/C | p.419 D>D/H | p.1543 D>D/V | p.3395 Q>Q/X | p.1 M>I | p.641 Y>Y/F | wt | wt | wt | wt | wt |
FL38 | Unknown | c.1255 G>G/C | p.419 D>D/H | p.1502 W>R | wt | p.158 Q>X | wt | wt | wt | wt | wt | wt |
FL22 | Unknown | c.1256 A>A/C | p.419 D>D/A | p.1499 L>L/P | Exon 15 splice donor mutation | wt | wt | wt | wt | wt | wt | wt |
ML064 | Untreated | c.1256 A>A/G | p.419 D>D/G | p.1421 C>C/F; p.482 Q>Q/X | wt | wt | wt | wt | HIST1H1-D p.84G>D | wt | wt | wt |
L084 | Relapsed | c.1256 A>A/G | p.419 D>D/G | p.1446 R>L | wt | wt | wt | wt | wt | wt | p.262 G>V | wt |
L046 | Untreated | c.1256 A>A/G | p.419 D>D/G | p.1446 R>C | wt | p.3fs | wt | wt | HIST1H1-D p.82K>K/D | wt | wt | p.223T>T/S |
L054 | Relapsed | c.1256 A>A/G; c.1928 C>C/T | p.419 D>D/G; p.643 P>P/L | p.S1680* | p.2970 S>S/N | p.96 C>X | p.641 Y>Y/N | wt | wt | wt | wt | wt |
L097 | Untreated | c.1568 A>A/T | p.523 D>D/V | p.1484 F>F/S | p.2685 R>R/X | wt | wt | wt | wt | wt | wt | wt |
ML055 mutation context: c.11358-11366dupGGTCCAGC; L026 mutation context: AACCACTGAGctacagaccct; FL22 mutation context: AGTGCAAGTGttaaggagact; L054 mutation context: c.5039_5041delCCT. CREBBP cDNA: NM_004380.2; MLL2 cDNA: NM_003482.3; TNFRSF14 cDNA: NM_003820.2; MEF2B cDNA: NM_001145785.1.
fs, frameshift.