目的：腺泡细胞癌 (ACC) 约占胰腺癌的 1%。 ACC 的分子和临床特征不如胰腺导管腺癌。方法：我们回顾性评估了 2008 年至 2022 年在德克萨斯大学 MD 安德森癌症中心接受种系和/或体细胞分子检测的 ACC 患者的临床和分子特征，以及 2023 年至 2024 年在波士顿接受 RNA 和 TME 分析的两例患者的临床和分子特征。基因。经机构审查委员会批准，从我们的机构数据库中提取患者信息。结果：我们确定了 16 名具有可用分子检测结果的患者。诊断时，14 名患者患有转移性疾病，1 名患者患有临界可切除疾病，1 名患者患有局部可切除疾病。 15 名患者为 KRAS 野生型（一名患者 KRAS 状态未知）。 DNA 损伤修复基因（BRCA1/2、PALB2 和 ATM）的体细胞/种系突变在 12 名接受这些基因测试的患者中的 5 名中存在。一名患者被发现有 RET 融合，并且对 selpercatinib 的反应超过 42 个月。转移性疾病患者的中位总生存期 (OS) 为 24 个月。另外两例接受 BostonGene 检测的病例中，其中一例被发现存在 NTRK1 融合。 Boston Gene 对这两个病例的 RNA 和 TME 分析报告了免疫荒漠特征，与 PDAC 相比，CEACAM5、CD47、CD74 和 MMP1 的 RNA 水平相对较低，CDH6 的 RNA 水平较高。

Objectives: Acinar cell carcinoma (ACC) accounts for about 1% of pancreatic cancers. The molecular and clinical features of ACC are less characterized than those of pancreatic ductal adenocarcinoma. Methods: We retrospectively evaluated the clinical and molecular features of ACC patients who underwent germline and/or somatic molecular testing at The University of Texas MD Anderson Cancer Center from 2008 to 2022 and two cases from 2023-2024 who underwent RNA and TME analysis by Boston Gene. Patient information was extracted from our institutional database with the approval of the Institutional Review Board. Results: We identified 16 patients with available molecular testing results. Fourteen patients had metastatic disease, one had borderline resectable disease, and one had localized resectable disease at diagnosis. Fifteen patients were wild type for KRAS (one patient had unknown KRAS status). Somatic/germline mutations of DNA damage repair genes (BRCA1/2, PALB2, and ATM) were present in 5 of 12 patients tested for these genes. One patient was found to have RET fusion and responded favorably to selpercatinib for over 42 months. The median overall survival (OS) was 24 months for patients with metastatic disease. One of the additional two cases who underwent BostonGene testing was found to have NTRK1 fusion. RNA and TME analysis by Boston Gene of the two cases reported immune desert features and relatively lower RNA levels of CEACAM5, CD47, CD74, and MMP1 and higher RNA levels of CDH6 compared with PDAC.