Table 2 Molecular features of PRKACA rearranged pancreatobiliary neoplasms
Case | Diagnosis | Test | Partner gene (5′) | Kinase gene (3′) | Predicted fusion | Other genomic mutations / alterations |
|---|---|---|---|---|---|---|
1 | IOPN with invasion | MSK-Fusion | ATP1B1 Exon 1 (NM_001677) | PRKACA Exon 2 (NM_002730) | Protein fusion: in frame (ATP1B1-PRKACA) | BCL10 D139V, GREM1 S137del, MYD88 S129C, MDM2 amplification |
2 | Biliary IOPN with invasion | MSK-IMPACT & FISH | DNAJB1 Intron 1 (NM_006145) | PRKACA Intron 1 (NM_002730) | Protein fusion: in frame (DNAJB1-PRKACA) | KIT P34L, NOTCH4 R373W, BLM D239N, LATS2 V367I |
3 | IOPN | MSK-IMPACT & FISH | DNAJB1 Intron 1 (NM_006145) | PRKACA Promoter (NM_002730) | Transcript fusion (DNAJB1-PRKACA) | RAF1 A150S, KMT2D G5189R, KMT2D W2038X |
4 | IPMN, mixed oncocytic and pancreatobiliary features, with invasion | MSK-IMPACT | DNAJB1 Intron 1(NM_006145) | PRKACA Intron 1(NM_002730) | Protein fusion: in frame (DNAJB1-PRKACA) | BRAF V600_K601delinsE, BCOR E382Qfs*53, KLF4 K409Q, loss of chromosome arm 9p21–24 |
5 | IPMN, mixed oncocytic and gastric features | MSK-IMPACT & FISH | DNAJB1 Exon 2 (NM_006145) | PRKACA Intron 1 (NM_207518) | Protein fusion: mid-exon (DNAJB1-PRKACA) | KRAS G12D |
6 | IPMN with mixed oncocytic and pancreatobiliary features, with invasion | MSK-IMPACT | DNAJB1 Intron 1 (NM_006145) | PRKACA Intron 1 (NM_002730) | Protein fusion: in frame (DNAJB1-PRKACA) | KRAS G12R, TP53, R110C, ERBB2, R678W, TRAF2 I376V |
