| 1 | Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma:A case report and review of literature显示文摘BACKGROUND Pancreatic acinar cell carcinoma(PACC)is a rare tumor.Up to 45%of PACCs have alterations in the DNA damage repair pathway and 23%harbor rearrangements in the BRAF or RAF1 genes.We present a PACC case with a germline BRCA2 likely pathogenic variant(LPV)to highlight the impact of genomic testing on treatment decisions and patient outcomes.In our larger case series,we provide clinic-based information on additional 10 PACC patients treated in our center.CASE SUMMARY A 70-year-old male was diagnosed with advanced PACC.At presentation,he was cachectic with severe arthralgia despite prednisolone and a skin rash that was later confirmed to be panniculitis.He was treated with modified FOLFIRINOX(mFFX)with the knowledge of the germline BRCA2 LPV.Following 11 cycles of mFFX,a computed tomography(CT)scan demonstrated significant tumor response in the pancreatic primary and hepatic metastases,totaling 70%from baseline as per Response Evaluation Criteria in Solid Tumors.Resolution of the skin panniculitis was also noted.We identified two additional PACCs with druggable targets in our case series.Our data contribute to practical evidence for the value of germline and somatic profiling in the management of rare diseases like PACC.CONCLUSION This patient and others in our larger case series highlight the importance of genomic testing in PACC with potential utility in personalized treatment. | Cha Len Lee Spring Holter Ayelet Borgida Anna Dodd Stephanie Ramotar Robert Grant Kristy Wasson Elena Elimova Raymond W Jang Malcolm Moore Tae Kyoung Kim Korosh Khalili Carol-Anne Moulton Steven Gallinger Grainne M O’Kane Jennifer J Knox | 2022 | World Journal of Gastroenterology2022，28，45： | 0 |
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