Olliverrie Akil, Konlack Mekontso Joel Gabin, Ren Jingwei, Karim Syed, Karam Imad, Chiu Edwin, Chum Christopher
Department of Internal Medicine, NYC Health and Hospitals South Brooklyn Health, Brooklyn, New York, USA.
OMS-4, Touro University College of Osteopathic Medicine, Harlem, New York, USA.
Case Rep Oncol Med. 2025 Sep 9;2025:7884410. doi: 10.1155/crom/7884410. eCollection 2025.
Metastatic ampullary carcinoma (AC) almost always carries a poor prognosis. We present a remarkable case of a 69-year-old male with Stage IV pancreaticobiliary-type AC who achieved a complete remission after 45 months of palliative modified FOLFIRINOX chemotherapy (5-fluorouracil, oxaliplatin, leucovorin, irinotecan). This unexpected outcome challenges the conventional understanding of the natural history of advanced AC. Furthermore, molecular analysis revealed a pathogenic PALB2 mutation, along with variants of unknown significance in the POLD1 and RAD50 genes, coding for enzymes involved in various deoxyribonucleic acid (DNA) repair pathways. These findings raise questions about their potential influence on treatment response and prognosis. This case underscores the need for further investigation into the role of molecular alterations and personalized approaches in managing advanced AC.
转移性壶腹癌（AC）几乎总是预后不良。我们报告了一例69岁男性IV期胰胆管型AC的显著病例，该患者在接受姑息性改良FOLFIRINOX化疗（5-氟尿嘧啶、奥沙利铂、亚叶酸钙、伊立替康）45个月后实现了完全缓解。这一意外结果挑战了对晚期AC自然病程的传统认识。此外，分子分析发现了一个致病性PALB2突变，以及POLD1和RAD50基因中意义不明的变异，这些基因编码参与各种脱氧核糖核酸（DNA）修复途径的酶。这些发现引发了关于它们对治疗反应和预后潜在影响的问题。该病例强调了进一步研究分子改变和个性化方法在晚期AC管理中的作用的必要性。
