Pancreatic acinar cell carcinoma (PACC) is a rare malignancy, accounting for less than 2 % of all pancreatic cancers that exhibits distinct clinical and molecular features compared to the more common pancreatic ductal adenocarcinoma (PDAC). Historically, treatment approaches for PACC have been adapted from PDAC due to limited available prospective and/or randomized data to guide management. However, the emergence of next-generation sequencing (NGS) has revealed a unique genomic landscape in PACC, creating new opportunities for precision oncology. Unlike PDAC, PACC typically lacks KRAS, TP53, and CDKN2A mutations and instead shows alterations in the Wnt/β-catenin pathway (APC, CTNNB1), homologous recombination repair (HRR) genes (e.g., BRCA1/2, ATM), and mismatch repair (MMR) genes, which may have potential therapeutic implications. Targeted therapies have demonstrated clinical benefit in select cases, including PARP inhibitors for HRR-deficient tumors and immune checkpoint inhibitors for microsatellite instability-high (MSI-H) or MMR-deficient PACC. Additional actionable alterations such as BRAF V600E mutations, NTRK fusions, and ALK rearrangements have responded to corresponding targeted agents. Though based primarily on limited reports, these observations support the utility of comprehensive molecular profiling in guiding therapy for PACC. Universal germline testing is also recommended, given the high prevalence of germline HRR mutations and its implications for treatment and familial risk. In summary, the potential for personalized cancer therapy is promising in PACC. The integration of molecular diagnostics into clinical care is essential for identifying therapeutic targets and optimizing outcomes; continued research and participation in genomically matched clinical trials are key to advancing treatment paradigms for this rare malignancy.
山东省济南市章丘区文博路2号
齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号
大学科技园北区F座4单元2楼
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