Mody Juhi, Kamgar Mandana
Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, IL, USA.
Medical College of Wisconsin and The LaBahn Pancreatic Cancer Program, Milwaukee, WI, USA.
Case Rep Oncol. 2024 Mar 1;17(1):399-406. doi: 10.1159/000536552. eCollection 2024 Jan-Dec.
Mutation in oncogene is the main driver in pancreatic ductal adenocarcinoma (PDAC) and is present in nearly 90% of patients with PDAC. () mutation is rare in PDAC and is mostly present in the absence of mutation. Co-occurrence of and mutations is extremely rare, and the value of EGFR inhibition in these cases is unknown.
Here, we present a case of metastatic PDAC with co-occurrence of G12V and L730R. Despite primary resistance to folinic acid, fluorouracil, irinotecan, oxaliplatin, and gemcitabine/nab-paclitaxel, this patient had a biochemical response (decrease in carbohydrate antigen 19-9) and disease control of 7 months on gemcitabine/erlotinib (an EGFR inhibitor). This outcome is remarkable in the late-line PDAC treatment setting and is unusual after the progression of the tumor on gemcitabine/nab-paclitaxel chemotherapy.
This case suggests that gemcitabine/erlotinib could be an effective treatment in patients with PDAC and co-occurrence of and mutations.
癌基因的突变是胰腺导管腺癌（PDAC）的主要驱动因素，近90%的PDAC患者存在该突变。（）突变在PDAC中罕见，且大多在不存在（）突变时出现。（）和（）突变同时出现极为罕见，在这些情况下表皮生长因子受体（EGFR）抑制的价值尚不清楚。
在此，我们报告一例转移性PDAC患者，其同时出现（）G12V和（）L730R突变。尽管对亚叶酸、氟尿嘧啶、伊立替康、奥沙利铂以及吉西他滨/纳米白蛋白结合型紫杉醇原发耐药，但该患者在接受吉西他滨/厄洛替尼（一种EGFR抑制剂）治疗时出现生化反应（糖类抗原19-9降低）且疾病控制达7个月。这一结果在晚期PDAC治疗中很显著，且在吉西他滨/纳米白蛋白结合型紫杉醇化疗后肿瘤进展的情况下并不常见。
该病例提示吉西他滨/厄洛替尼可能是治疗同时出现（）和（）突变的PDAC患者的有效疗法。
