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 forKRAS(one patient had unknownKRASstatus). Somatic/germline mutations of DNA damage repair genes (BRCA1/2,PALB2, andATM) 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.
目的：腺泡细胞癌约占胰腺癌的1%。与胰腺导管腺癌相比，腺泡细胞癌的分子和临床特征研究尚不充分。 方法：我们回顾性分析了2008年至2022年间在德克萨斯大学MD安德森癌症中心接受胚系和/或体细胞分子检测的腺泡细胞癌患者的临床及分子特征，以及2023-2024年间由Boston Gene公司进行RNA和肿瘤微环境分析的两例病例。在获得机构审查委员会批准后，患者信息从我院数据库中提取。 结果：我们共确定了16例拥有分子检测结果的患者。其中14例在诊断时为转移性疾病，1例为临界可切除疾病，1例为局部可切除疾病。15例患者的KRAS基因呈野生型（1例患者KRAS状态未知）。在接受相关基因检测的12例患者中，有5例存在DNA损伤修复基因（BRCA1/2、PALB2和ATM）的体细胞/胚系突变。1例患者被发现存在RET融合，并对塞尔帕替尼治疗产生良好应答，持续时间超过42个月。转移性疾病患者的中位总生存期为24个月。在另外两例接受Boston Gene检测的病例中，发现1例存在NTRK1融合。Boston Gene对这两例病例的RNA和肿瘤微环境分析显示，与胰腺导管腺癌相比，其具有免疫荒漠特征，且CEACAM5、CD47、CD74和MMP1的RNA水平相对较低，而CDH6的RNA水平较高。
肿瘤(癌症)患者之家