Messersmith Lynn, Rizvi Areeba H, El-Rayes Dina, Stewart Jimmie
Department of Lab Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA.
Diagn Cytopathol. 2025 Aug;53(8):E160-E164. doi: 10.1002/dc.25488. Epub 2025 May 21.
Mutations in the DNA polymerase epsilon (POLE) gene are associated with an increased risk of various malignancies, including colorectal and other gastrointestinal, endometrial, ovarian, breast, and brain cancers. In extremely rare cases, POLE mutations have also been associated with pancreatic and hepatobiliary carcinomas. We present the case of an 87-year-old female with a complex medical history including multiple malignancies, who underwent endoscopic ultrasound-guided fine-needle aspirations of a pancreatic head mass and a liver lesion. Utilizing rapid on-site evaluation (ROSE) and full cytologic workup, she was ultimately diagnosed with synchronous pancreatic adenocarcinoma and the steatohepatitic variant of hepatocellular carcinoma. Given her history of multiple malignancies, she underwent genetic testing, and a rare germline POLE mutation was discovered. This case expands the phenotypic spectrum of potential POLE-associated syndromes and highlights the critical role of cytopathology in fine-needle aspiration procedures for diagnosis and management of complex oncologic cases.
DNA聚合酶ε（POLE）基因突变与多种恶性肿瘤风险增加相关，包括结直肠癌及其他胃肠道癌、子宫内膜癌、卵巢癌、乳腺癌和脑癌。在极为罕见的情况下，POLE突变也与胰腺癌和肝胆癌有关。我们报告了一例87岁女性病例，其有复杂的病史，包括多种恶性肿瘤，该患者接受了内镜超声引导下胰头肿块和肝脏病变的细针穿刺抽吸术。通过快速现场评估（ROSE）和全面的细胞学检查，最终诊断为同步性胰腺腺癌和脂肪性肝炎型肝细胞癌。鉴于其多种恶性肿瘤病史，对她进行了基因检测，发现了一种罕见的种系POLE突变。该病例扩展了潜在的POLE相关综合征的表型谱，并突出了细胞病理学在细针穿刺抽吸术诊断和管理复杂肿瘤病例中的关键作用。
