Mutation overview in ISFN/mFL pairs and ISFN-only cases
| . | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Case no. . | Gene . | Protein level . | DNA level . | Coverage . | Frequency, % . | Verification* . | Method . | ISFN no. . | Analysis in paired ISFN . |
| ISFN/mFL pairs | |||||||||
| mFL-1 | CREBBP | p.L1499Q | c.4496T>A | ND | ND | — | Sanger | 1 | Not present† |
| mFL-2 | EZH2 | p.Y646N | c.1936T>A | ND | ND | — | Sanger | 2 | Not present† |
| CREBBP | p.I1471T | c.4412T>C | ND | ND | — | Present‡ | |||
| mFL-3 | TNFRSF14 | p.C185S | c.553T>A | 135 | 62.2 | Confirmed | NGS | 3 | Present (9%)† |
| CREBBP | p.L1434P | c.4301T>C | 2541 | 29.7 | Confirmed | Present (3%)† | |||
| CREBBP | p.R1446H | c.4337G>A | 2515 | 29.2 | Confirmed | Present (6%)†,‡ | |||
| EZH2 | p.Y646H | c.1936T>C | 1190 | 30.4 | Confirmed | Not present but p.Y646N (5%)† | |||
| KMTD2 | p.K1840fs | c.5519_5529delAAGCCGATACA | 102 | 43.6 | Confirmed | Present‡ | |||
| mFL-4 | TNFRSF14 | p.S171C | c.512C>G | 777 | 59.6 | Confirmed | NGS | 4 | Not present†,‡ |
| EZH2 | p.Y646N | c.1936T>A | 1482 | 48.6 | Confirmed | Present (33%)† | |||
| CREBBP | p.L1499P | c.4496T>C | 3022 | 74.8 | Confirmed | Present (20%)† | |||
| mFL-5 | CREBBP | p.S1382fs | c.4145delA | 1663 | 20.4 | Confirmed | NGS | 5 | Present (15%)† |
| EP300 | p.D1399Y | c.4195G>T | 532 | 17.5 | Confirmed | Not present† | |||
| mFL-6 | CREBBP | p.R1446C | c.4336C>T | 1021 | 6.2 | Confirmed | NGS | 6 | Present (5%)† |
| EZH2 | p.Y646F | c.1937A>T | 498 | 5.0 | Confirmed | Present†,‡ | |||
| ISFN-only cases | |||||||||
| ISFN-7 | KMT2D | p.C5227Ter | c.15681C>A | 6012 | 14 | Confirmed | NGS | ||
| KMT2D | p.Q3518Ter | c.10552C>T | 1064 | 15 | Confirmed | — | — | ||
| ISFN-8 | EP300 | p.T1332P | c.3994A>C | 4651 | 11 | Confirmed | NGS | ||
| TNFRSF14 | Splice site | c.179-2A>T | 9554 | 10 | Confirmed | — | — | ||
| ISFN-9 | TNFRSF14 | p.C121Ter | c.363C>A | 6251 | 8 | Confirmed | NGS | ||
| CREBBP | p.H1487Y | c.4459C>T | 6562 | 12 | Confirmed | — | — | ||
| ISFN-10 | EZH2 | p.Y646F | c.1937A>T | 789 | 3 | Confirmed | NGS | — | — |
| ISFN-11 | — | — | — | — | — | — | NGS | — | — |
| . | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Case no. . | Gene . | Protein level . | DNA level . | Coverage . | Frequency, % . | Verification* . | Method . | ISFN no. . | Analysis in paired ISFN . |
| ISFN/mFL pairs | |||||||||
| mFL-1 | CREBBP | p.L1499Q | c.4496T>A | ND | ND | — | Sanger | 1 | Not present† |
| mFL-2 | EZH2 | p.Y646N | c.1936T>A | ND | ND | — | Sanger | 2 | Not present† |
| CREBBP | p.I1471T | c.4412T>C | ND | ND | — | Present‡ | |||
| mFL-3 | TNFRSF14 | p.C185S | c.553T>A | 135 | 62.2 | Confirmed | NGS | 3 | Present (9%)† |
| CREBBP | p.L1434P | c.4301T>C | 2541 | 29.7 | Confirmed | Present (3%)† | |||
| CREBBP | p.R1446H | c.4337G>A | 2515 | 29.2 | Confirmed | Present (6%)†,‡ | |||
| EZH2 | p.Y646H | c.1936T>C | 1190 | 30.4 | Confirmed | Not present but p.Y646N (5%)† | |||
| KMTD2 | p.K1840fs | c.5519_5529delAAGCCGATACA | 102 | 43.6 | Confirmed | Present‡ | |||
| mFL-4 | TNFRSF14 | p.S171C | c.512C>G | 777 | 59.6 | Confirmed | NGS | 4 | Not present†,‡ |
| EZH2 | p.Y646N | c.1936T>A | 1482 | 48.6 | Confirmed | Present (33%)† | |||
| CREBBP | p.L1499P | c.4496T>C | 3022 | 74.8 | Confirmed | Present (20%)† | |||
| mFL-5 | CREBBP | p.S1382fs | c.4145delA | 1663 | 20.4 | Confirmed | NGS | 5 | Present (15%)† |
| EP300 | p.D1399Y | c.4195G>T | 532 | 17.5 | Confirmed | Not present† | |||
| mFL-6 | CREBBP | p.R1446C | c.4336C>T | 1021 | 6.2 | Confirmed | NGS | 6 | Present (5%)† |
| EZH2 | p.Y646F | c.1937A>T | 498 | 5.0 | Confirmed | Present†,‡ | |||
| ISFN-only cases | |||||||||
| ISFN-7 | KMT2D | p.C5227Ter | c.15681C>A | 6012 | 14 | Confirmed | NGS | ||
| KMT2D | p.Q3518Ter | c.10552C>T | 1064 | 15 | Confirmed | — | — | ||
| ISFN-8 | EP300 | p.T1332P | c.3994A>C | 4651 | 11 | Confirmed | NGS | ||
| TNFRSF14 | Splice site | c.179-2A>T | 9554 | 10 | Confirmed | — | — | ||
| ISFN-9 | TNFRSF14 | p.C121Ter | c.363C>A | 6251 | 8 | Confirmed | NGS | ||
| CREBBP | p.H1487Y | c.4459C>T | 6562 | 12 | Confirmed | — | — | ||
| ISFN-10 | EZH2 | p.Y646F | c.1937A>T | 789 | 3 | Confirmed | NGS | — | — |
| ISFN-11 | — | — | — | — | — | — | NGS | — | — |
5% VAF was defined as sensitivity threshold in the analysis of manifest FL samples.
ND, no data available.
Verification of mutations in mFL was performed either with Sanger sequencing or Illumina MiSeq; verification of mutations in ISFN-only cases was performed with single amplicons on the Ion Torrent PGM.
Analysis by targeted resequencing on the Illumina MiSeq.
Analysis with Sanger sequencing.