Parente Paola, Angerilli Valentina, Grillo Federica, Ambrosio Maria Raffaella, Petrelli Federica, Gasparello Jessica, Antoci Francesca, Pilozzi Emanuela, Scarpino Stefania, Adotti Flavia, Ascione Andrea, Veccia Norman, Caputo Alessandro, Giobbe Mariantonia, Gafà Roberta, Melocchi Laura, Gandolfi Laura, Parrella Paola, Pasculli Barbara, Vasuri Francesco, Macciomei Maria Cristina, Vanoli Alessandro, Saragoni Luca, Lanza Giovanni, Mastracci Luca, Fassan Matteo
Pathology Unit, Fondazione IRCCS Ospedale Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy.
Surgical Pathology Unit, Department of Medicine, University of Padua, Via Gabelli 60, 35121 Padua, Italy.
Cancers (Basel). 2025 Aug 22;17(17):2721. doi: 10.3390/cancers17172721.
Colorectal cancer (CRC) is the third most frequent malignancy and the second cause of cancer-related death worldwide. CRC is characterized by morphologic and biological heterogeneity, and molecular profiling is required to select appropriate treatment in the metastatic setting. Mutations in are detected in approximately 40% of CRCs, with prognostic and predictive value, and with the most frequent being p.G12D. Nonetheless, there are few data on the morphologic features in -mutated CRCs.
We retrospectively collected clinicopathological features and molecular profiles of CRCs in a multicenter cohort.
A total of 2816 patients from 12 centers were included. mutation was found in 47.4% of cases; was detected in 23.9%, with different mutation frequencies between centers. Clinicohistological features associated with mutation included younger patient age (≤70 years of age), higher prevalence in males (58.6%), NOS histotype (87.1%), low pathologic grade (73.9%), high grade budding-Bd3 (43.8%), and tumoral lympho-vascular invasion (68.9%).
Recent data have pinpointed the prognostic and predictive value of mutation, and our results contribute to understanding its biology, with particular focus on peculiar clinicopathological features. Moreover, we found significant differences in pathology reports and assays for molecular profiling in different centers, which can affect a standardized therapeutic approach in CRC.
结直肠癌（CRC）是全球第三大常见恶性肿瘤，也是癌症相关死亡的第二大原因。CRC具有形态学和生物学异质性，在转移性情况下需要进行分子分析以选择合适的治疗方法。约40%的CRC中检测到 突变，具有预后和预测价值，其中最常见的是p.G12D。然而，关于 突变型CRC的形态学特征的数据很少。
我们回顾性收集了多中心队列中CRC的临床病理特征和分子谱。
纳入了来自12个中心的2816例患者。47.4%的病例中发现 突变；23.9%检测到 ，各中心之间的突变频率不同。与 突变相关的临床组织学特征包括患者年龄较轻（≤70岁）；男性患病率较高（58.6%）；NOS组织学类型（87.1%）；病理分级低（73.9%）；高级别芽生-Bd3（43.8%）；肿瘤淋巴血管侵犯（68.9%）。
近期数据已明确 突变的预后和预测价值，我们的结果有助于理解其生物学特性，尤其关注其独特的临床病理特征。此外，我们发现不同中心在病理报告和分子分析检测方面存在显著差异，这可能会影响CRC的标准化治疗方法。
