Copyright
©The Author(s) 2022.
World J Gastroenterol. Dec 7, 2022; 28(45): 6421-6432
Published online Dec 7, 2022. doi: 10.3748/wjg.v28.i45.6421
Published online Dec 7, 2022. doi: 10.3748/wjg.v28.i45.6421
Table 2 Germline and somatic molecular profiles of the pancreatic ductal adenocarcinoma patients in this study
Year of diagnosis | Age at diagnosis | Germline testing | Somatic testing | Driver mutation | Personal or family history of malignancy | Disease staging | Surgery and perioperative chemotherapy | TTP after surgery (mo) | First line systemic therapy | Second line systemic therapy | Best treatment and clinical status | OS (mo) |
2014 | 65 | BRCA1, BRCA2 negative | Not performed | Nil | Family history of leukemia, colorectal, ovarian, and prostate cancers | T3N0M0 R1 | Neoadjuvant mFFX with radiotherapy followed by Whipple procedure | 1.5 | Gemcitabine for 4 cycles | BSC | PD, DOD | 28.2 |
MMR IHC intact | ||||||||||||
2014 | 63 | Not performed | Not performed | Nil | Nil | T3N1bM0 R0 | Whipple procedure with perioperative mFFX for 12 cycles | 10.4 | BSC | Nil | PD, DOD | 23.2 |
2014 | 74 | CDKN2A pathogenic variant c.159G>C, p.Met53Ile | Not performed | Nil | Family history of melanoma and PDAC | Stage IV | Nil | NA | mFFX for 3 cycles | BSC | PD, DOD | 4.6 |
Personal history of malignant melanoma | ||||||||||||
2015 | 60 | Not performed | Not performed | Nil | Thoracic cancer | T2N0M0 R0 | Distal pancreatectomy with adjuvant Gemcitabine for 2 cycles which were discontinued due to toxicities | 10.7 | GnP 18 mo | N/A | SD, DOD | 36.0 |
2017 | 66 | WGS and RNA seq | WGS and RNA seq | KRAS, SMAD4 | Nil | Stage IV | Nil | NA | mFFX for 8 cycles | BSC | SD, DOD | 13.4 |
KRAS, SMAD4, CDKN2A TP53, ATM, TGFBR2, and KDM6A | ||||||||||||
MMR IHC intact | ||||||||||||
2018 | 64 | Not performed | Not performed | Nil | Nil | T3N0M0 R0 | Whipple procedure. No adjuvant therapy | 10.6 | GnP for 4 cycles | BSC | PD, DOD | 32.3 |
2020 | 61 | 91 gene panel | WGS and RNA seq | BRAF | Family history of PDAC | Stage IV | Nil | NA | GnP for 16 cycles | Cobimetinib 60 mg OD PO (enrolled on CAPTUR trial | PR, AWD | 20.4 ongoing |
SND1-BRAF fusion | ||||||||||||
MMR IHC intact | ||||||||||||
2021 | 70 (case described) | 12 gene panel | Not performed | BRCA2 | Family history of ovarian cancer | Stage IV | Nil | NA | mFFX for 11 cycles | Maintenance Olaparib 150 mg twice daily | PR, AWD | 11.5 ongoing |
BRCA2 | ||||||||||||
Likely pathogenic variant | ||||||||||||
c.4356delinsCA, p.Gln1452Hisfs*8 | MMR IHC intact | Personal history of renal cell cancer and NSCLA | ||||||||||
2021 | 65 | 91 gene panel | Not performed | Nil | Family history of head and neck cancer | Stage IV | Nil | NA | mFFX for 14 cycles, followed by maintenance FOLFIRI | RP-3500 in combination with Gemcitabine (enrolled on RP-3500-01 trial) | SD, ADW | 13.4 ongoing |
ATM | ||||||||||||
Pathogenic variant | ||||||||||||
c.8418+5_8418+8del | ||||||||||||
2021 | 71 | BRCA1, BRCA 2 | Not performed | BRCA2 | Family history of breast cancers | Stage IV | Nil | NA | 5FU with Oxaliplatin for 12 cycles, downsized to Whipple procedure | N/A | PR, AWD | 12.1 ongoing |
BRCA2 pathogenic variant c.8904delC, p.Val2969Cysfs*7 | ||||||||||||
2021 | 57 | 12 gene panel negative | Not performed | Nil | Family history of non-Hodgkins Lymphoma | Stage IV | Nil | NA | Ongoing mFFX; had 16 cycles | N/A | PR, AWD | 12.3 ongoing |
- Citation: Lee CL, Holter S, Borgida A, Dodd A, Ramotar S, Grant R, Wasson K, Elimova E, Jang RW, Moore M, Kim TK, Khalili K, Moulton CA, Gallinger S, O’Kane GM, Knox JJ. Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature. World J Gastroenterol 2022; 28(45): 6421-6432
- URL: https://www.wjgnet.com/1007-9327/full/v28/i45/6421.htm
- DOI: https://dx.doi.org/10.3748/wjg.v28.i45.6421