Alfaro Alejandro, Zanabria Daniel, Aguilar Alfredo, Jimenez-Solano Sergio A, Zevallos Alejandra, Fajardo Williams
Department of Pathology, Hospital Nacional Dos de Mayo, Lima 15003, Peru.
Department of Pathology, Oncosalud-AUNA, Lima 15036, Peru.
Mol Clin Oncol. 2023 Jan 26;18(3):16. doi: 10.3892/mco.2023.2612. eCollection 2023 Mar.
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.
胃癌（GC）在全球最常见恶性肿瘤中排名第五。在秘鲁，胃肿瘤被认为是男性中第二大死亡原因。在GC的分子亚组中，微卫星不稳定性因其高突变表型而呈现出良好的预后，这种表型会激活免疫监视。本研究描述了一名75岁患者的病例，该患者因上消化道出血病史和严重贫血反复入院。患者皮肤苍白，生命体征正常，下肢轻度肿胀，体格检查时腹部膨隆。内镜检查发现一个浸润性圆形溃疡病变。组织病理学分析确定为中度分化的肠型腺癌，病理分期为T3N0M0。肿瘤基因组分析显示15个不同基因发生改变，肿瘤突变负荷为28个突变/Mb。最后，患者未接受术前化疗即接受了部分胃切除术。4天后，患者出现术后并发症并接受了再次手术。患者未能存活。据我们所知，在本病例中，恶性贫血是GC的早期体征，必须进行胃镜检查。此外，MutS同源物3的改变可能是多个移码突变存在的条件。
