Table 3 Results of molecular testing and IHC on RAF1 fusion-positive (n = 5) cases.
From: RAF1 rearrangements are common in pancreatic acinar cell carcinomas
ID | DNA sequencing | RNA sequencing | RAF1 IHC | pERK IHC | |
|---|---|---|---|---|---|
RAF1 fusion | other | ||||
9 | GOLGA4 intron 16-RAF1 intron 7 | Biallelic deletion of CDKN2B, AXIN and SMAD4. Numerous genome-wide copy changes including gain of Chr 1q and loss of Chr 1p, Chr 6, Chr 16 and Chr 18. | GOLGA4 exon 17-RAF1 exon 8 | Strong at periphery, granular cytoplasmic | Strong at periphery, nuclear and cytoplasmic |
12a | GATM intron 2-RAF1 intron 9 (no SV in BRAF) | Biallelic CDKN2A-CDKN2B deletion. Splicing variant of BAP1 predicted to cause nonsense-mediated RNA decay. Numerous genome-wide copy gains including Chr 1q. | GATM exon 2-RAF1 exon 10 | Strong at periphery, granular cytoplasmic | Moderate, nuclear and cytoplasmic |
17 | PDZRN3 intron 5-RAF1 intron 7 | Numerous genome-wide copy changes including gain of Chr 1q and loss of Chr 1p, Chr 6, Chr 16p and Chr 18. | PDZRN3 exon 5-RAF1 exon 8 | Wild type pattern | Strong at periphery, nuclear and cytoplasmic |
29 | HERPUD1 3’ UTR-RAF1 intron 7 | Biallelic CDKN2A deletion. MEK1/MAP2K1 E203K activating missense mutation. Numerous genome-wide copy changes including gain of Chr 1q and loss of Chr 1p. Low tumor mutation burden (<4/Mb). | Rare in-frame HERPUD1 exons 1-7-RAF1 exons 8-17 transcripts (i.e., skipping of HERPUD1 exon 8 with stop codon). | Wild type pattern | Strong diffuse, nuclear and cytoplasmic |
30 | TRIM33 intron 11-RAF1 intron 7 | SMAD4 truncating mutation. Numerous genome-wide copy losses including Chr 1p, Chr16 and Chr18. | TRIM33 exon 11-RAF1 exon 8 | Moderate at periphery, granular cytoplasmic | Negative |
