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同步Recto-Sigmoid 结直肠腺癌伴微卫星不稳定和激活的 PIK3CA 突变。

Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation.

机构信息

St. George's University School of Medicine, Great River, NY, USA.

University of Florida, Gainesville, FL, USA.

出版信息

J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221121406. doi: 10.1177/23247096221121406.

Abstract

Synchronous colorectal cancer is a rare subtype of colorectal carcinoma defined by the presence of 2 or more primary tumors simultaneously or within 6 months of initial detection. The overall impact of a synchronous presentation on prognosis is not yet clear. Surgical resection is the primary treatment. However, higher rates of local recurrence and metastasis in synchronous colorectal cancer demand greater exploration of the role of adjuvant therapy. The increased frequency of microsatellite instability observed in synchronous colorectal cancer also affects therapy selection. Similarly, activating PIK3CA mutations are regularly noted in colorectal cancer, but their role in a synchronous presentation has not yet been described. We report a case of a young patient with a synchronous recto-sigmoid colorectal carcinoma complicated by microsatellite instability and an activating PIK3CA mutation-a presentation as of yet unreported in literature. We also review the impact of these molecular events on the efficacy of several chemotherapies and targeted therapies.

摘要

同步性结直肠癌是一种罕见的结直肠癌亚型,其特征是同时存在或在初始检测后 6 个月内存在 2 个或更多原发性肿瘤。同步性表现对预后的总体影响尚不清楚。手术切除是主要的治疗方法。然而,同步性结直肠癌局部复发和转移的发生率较高,这需要进一步探索辅助治疗的作用。在同步性结直肠癌中观察到的微卫星不稳定性增加也会影响治疗选择。同样,在结直肠癌中经常观察到激活的 PIK3CA 突变,但它们在同步性表现中的作用尚未描述。我们报告了一例年轻患者同时患有直肠乙状结肠癌,伴有微卫星不稳定性和激活的 PIK3CA 突变——这在文献中尚未报道过。我们还回顾了这些分子事件对几种化疗药物和靶向治疗药物疗效的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d39/9421004/012f4fcbf62d/10.1177_23247096221121406-fig1.jpg

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