胃腺癌伴高水平微卫星不稳定性1例报告。

IF 1.4 Q4 ONCOLOGY
Alejandro Alfaro, Daniel Zanabria, Alfredo Aguilar, Sergio A Jimenez-Solano, Alejandra Zevallos, Williams Fajardo
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引用次数: 0

摘要

胃癌(GC)在全球最常见的恶性肿瘤中排名第五。在秘鲁,胃肿瘤被认为是男性死亡的第二大原因。在GC的分子亚群中,微卫星不稳定性由于其超突变的表型而具有良好的预后,可激活免疫监测。本研究描述了一名75岁患者的病例,他因严重贫血而入院,有上消化道出血和反复住院的病史。患者体检时皮肤苍白,生命功能正常,下肢轻度肿胀,腹胀腹胀。内窥镜检查显示浸润性圆形溃疡病变。组织病理学分析确定为中分化肠型腺癌,病理分期为T3N0M0。肿瘤基因组分析显示15个不同基因的改变,肿瘤突变负荷为28个突变/Mb。最后,患者接受了部分胃切除术,没有术前化疗。4天后,患者出现术后并发症,再次手术。病人没能活下来。据我们所知,在本病例中,恶性贫血是胃癌的早期征兆,必须进行胃镜检查。此外,MutS同源3的改变可能制约了多个帧移突变的存在。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Gastric adenocarcinoma with high‑level microsatellite instability: A case report.

Gastric adenocarcinoma with high‑level microsatellite instability: A case report.

Gastric adenocarcinoma with high‑level microsatellite instability: A case report.

Gastric cancer (GC) ranks fifth on the list of the most common malignancies worldwide. In Peru, gastric neoplasms are considered the second leading cause of mortality among males. Among the molecular subgroups of GC, microsatellite instability presents a favorable prognosis due to its hypermutated phenotype, which activates immunosurveillance. The present study describes the case of a 75-year-old patient, who was admitted in the hospital with a history of upper gastrointestinal bleeding and recurrent hospital admission, due to severe anemia. The patient presented with pale skin, normal vital functions, slight swelling of the lower extremities, and abdominal distention and bloating upon a physical examination. An endoscopic examination revealed an infiltrating circular ulcerated lesion. The histopathological analysis identified a moderately differentiated intestinal-type adenocarcinoma with pathological stage T3N0M0. Tumor genomic profiling demonstrated alterations in 15 different genes with a tumor mutational burden of 28 mutations/Mb. Finally, the patient underwent a partial gastrectomy without pre-operative chemotherapy. After 4 days, the patient presented with post-operative complications for which he was re-operated on. The patient did not survive. To the best of our knowledge, in the present case, pernicious anemia was an early sign of GC and a gastroscopy had to be performed. Furthermore, MutS homolog 3 alterations probably conditioned the presence of multiple frame-shift mutations.

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CiteScore
2.80
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