Case report: Complete pathologic response with first-line immunotherapy combination in a young adult with massive liver dissemination of mismatch repair-deficient metastatic colorectal cancer: Immunological and molecular profiling

病例报告:一线免疫疗法联合治疗一名年轻成人,在错配修复缺陷型转移性结直肠癌大量肝转移后获得完全病理缓解:免疫学和分子分析

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作者:Francesca Bergamo, Silvia Dalla Santa, Fotios Loupakis, Krisida Cerma, Anna Tosi, Caterina De Grandis, Anna Dalla Pietà, Enrico Gringeri, Valentina Angerilli, Gaetano Ramondo, Alessandro Rago, Fabiola Cecchi, Stephen Benz, Umberto Cillo, Angelo Paolo Dei Tos, Vittorina Zagonel, Matteo Fassan, Antoni

Abstract

The current level of evidence for immunotherapy in previously untreated microsatellite unstable metastatic colorectal cancer is based on recent pieces of evidence of few studies that demonstrated durable response and clinical benefit, in terms of objective response rate, disease control rate, and progression-free survival in this subgroup of patients. On the basis of combinatorial immunotherapy with nivolumab plus ipilimumab, we report the exceptional case of a complete pathological response in a 21-year-old woman presenting a clinically aggressive stage IV colorectal cancer with massive nodal and liver involvement. Extensive molecular analyses based on whole genome next-generation DNA sequencing, RNA sequencing, fluorescent multiplex immunohistochemistry, and flow cytometry provided a detailed description of tumoral and immunological characteristics of this noteworthy clinical case.

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