Abstract：
BACKGROUND: Gastric adenocarcinoma of the fundic gland is a rare, well-differentiated variant of gastric adenocarcinoma, which has been proposed as a novel disease entity. As a result of mismatch repair deficiency, microsatellite instability has been frequently observed in various human cancers and widely performed in the area of cancer pathogenesis. Herein, we report a case of gastric adenocarcinoma of fundic gland presented with microsatellite instability phenotype.
METHODS: A 46-year-old man was referred to our hospital for abdominal distension and pain.
METHODS: The patient contained 3 tumor lesions with different degrees of histologic differentiation and microsatellite instability. The lesions were located in the upper third of the stomach. The tumor size was 55 mm. Macroscopically, tumor showed an ulcerative type. In terms of depth of invasion, tumor lesion invaded into subserosa with lymphatic invasion. In addition, this patient did not present GNAS mutation but harbored AXIN2 mutation. By immunohistochemistry, the expression level of β-catenin protein in the nucleus of the carcinoma cells was obviously higher than that in normal nucleus. Compared with microsatellite instability-low lesion, PD-1, PD-L1, and CD8 were positive in the microsatellite instability-high lesions.
METHODS: The patient underwent surgical resection and postoperative chemotherapy.
RESULTS: The patient experienced distant metastasis and died from severe complications after 6 months of treatment.
CONCLUSIONS: These results suggested that the mutation of Wnt component genes associated with Wnt/β-catenin signaling pathway activation may play a role in promoting the occurrence of gastric adenocarcinoma of fundic gland. This is the first report of a gastric adenocarcinoma of fundic gland with microsatellite instability. These findings modify our understanding of the pathophysiology of gastric adenocarcinoma of fundic gland.
METHODS: A 46-year-old man was referred to our hospital for abdominal distension and pain.
METHODS: The patient contained 3 tumor lesions with different degrees of histologic differentiation and microsatellite instability. The lesions were located in the upper third of the stomach. The tumor size was 55 mm. Macroscopically, tumor showed an ulcerative type. In terms of depth of invasion, tumor lesion invaded into subserosa with lymphatic invasion. In addition, this patient did not present GNAS mutation but harbored AXIN2 mutation. By immunohistochemistry, the expression level of β-catenin protein in the nucleus of the carcinoma cells was obviously higher than that in normal nucleus. Compared with microsatellite instability-low lesion, PD-1, PD-L1, and CD8 were positive in the microsatellite instability-high lesions.
METHODS: The patient underwent surgical resection and postoperative chemotherapy.
RESULTS: The patient experienced distant metastasis and died from severe complications after 6 months of treatment.
CONCLUSIONS: These results suggested that the mutation of Wnt component genes associated with Wnt/β-catenin signaling pathway activation may play a role in promoting the occurrence of gastric adenocarcinoma of fundic gland. This is the first report of a gastric adenocarcinoma of fundic gland with microsatellite instability. These findings modify our understanding of the pathophysiology of gastric adenocarcinoma of fundic gland.
摘要：
背景：胃底腺腺癌是一种罕见的，胃腺癌的高分化变异体，已被提议作为一种新的疾病实体。作为错配修复缺陷的结果，微卫星不稳定性在各种人类癌症中经常观察到，并在癌症发病机理领域广泛存在。在这里，我们报告了一例胃底腺腺癌，表现为微卫星不稳定表型。
方法：一名46岁的男子因腹胀和疼痛被转诊到我院。
方法：患者包含3个肿瘤病灶，具有不同程度的组织学分化和微卫星不稳定性。病变位于胃的上三分之一。肿瘤大小为55mm。宏观上,肿瘤表现为溃疡性.就入侵深度而言，肿瘤病变侵入浆膜下并伴有淋巴侵入。此外,该患者未出现GNAS突变,但携带AXIN2突变.通过免疫组织化学，β-catenin蛋白在癌细胞核中的表达水平明显高于正常细胞核。与微卫星不稳定性-低病变相比，微卫星不稳定性高病灶中PD-1、PD-L1和CD8呈阳性。
方法：患者接受手术切除和术后化疗。
结果：患者在治疗6个月后出现远处转移，死于严重并发症。
结论：这些结果提示与Wnt/β-catenin信号通路激活相关的Wnt组分基因突变可能在胃底腺腺癌的发生中起一定的促进作用。这是关于胃底腺具有微卫星不稳定性的胃腺癌的首次报道。这些发现改变了我们对胃底腺腺癌病理生理学的理解。
方法：一名46岁的男子因腹胀和疼痛被转诊到我院。
方法：患者包含3个肿瘤病灶，具有不同程度的组织学分化和微卫星不稳定性。病变位于胃的上三分之一。肿瘤大小为55mm。宏观上,肿瘤表现为溃疡性.就入侵深度而言，肿瘤病变侵入浆膜下并伴有淋巴侵入。此外,该患者未出现GNAS突变,但携带AXIN2突变.通过免疫组织化学，β-catenin蛋白在癌细胞核中的表达水平明显高于正常细胞核。与微卫星不稳定性-低病变相比，微卫星不稳定性高病灶中PD-1、PD-L1和CD8呈阳性。
方法：患者接受手术切除和术后化疗。
结果：患者在治疗6个月后出现远处转移，死于严重并发症。
结论：这些结果提示与Wnt/β-catenin信号通路激活相关的Wnt组分基因突变可能在胃底腺腺癌的发生中起一定的促进作用。这是关于胃底腺具有微卫星不稳定性的胃腺癌的首次报道。这些发现改变了我们对胃底腺腺癌病理生理学的理解。
