Liu Sen, Liu Hongyu, Dong Yunlong, Wang Fengbiao, Wang Huijuan, Chen Jun
Department of Gastrointestinal Surgery, Tianjin 4th Central Hospital, Hebei District, Tianjin 300140, China.
Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Tianjin Lung Cancer Institute.
Med Sci (Paris). 2018 Oct;34 Focus issue F1:15-19. doi: 10.1051/medsci/201834f103. Epub 2018 Nov 7.
Gastric carcinoma (GC) with gastrointestinal stromal tumor (GIST) is encountered very rarely in the clinic, and few cases have been reported in the literature. Here, we present a case involving a 72-year-old man who was diagnosed with gastric antrum adenocarcinoma accompanied by neuroendocrine differentiation and a GIST in the fundus, according to a preoperative examination and postoperative pathology. The patient then underwent a distal radical gastrectomy and GIST resection. After the operation, the patient was administered combined chemo-radiotherapy and subsequently underwent a 9-month follow-up examination. The gene mutations involved in this case were explored via high-throughput sequencing. The high-throughput gene mutation analysis indicated an exon5 mutation in the TP53 gene and copy number amplification of FGF19, CCND1, and FGFR2 in the gastric antrum adenocarcinoma. A gene sequencing analysis of the gastric fundus stromal tumor demonstrated an exon11 non-frame shift deletion mutation in the KIT gene. These findings suggested that this patient's cancer might be sensitive to AZD1775 (a TP53-targeted drug) or targeted drugs such as FGF19, CCND1 and FGFR2, and should be sensitive to imatinib.
胃癌合并胃肠道间质瘤（GIST）在临床上极为罕见，文献报道的病例也很少。在此，我们报告一例72岁男性患者，根据术前检查和术后病理，该患者被诊断为胃窦腺癌伴神经内分泌分化，胃底有一个胃肠道间质瘤。患者随后接受了远端根治性胃切除术和胃肠道间质瘤切除术。术后，患者接受了联合放化疗，随后进行了为期9个月的随访检查。通过高通量测序探索了该病例中涉及的基因突变。高通量基因突变分析表明，胃窦腺癌中TP53基因存在外显子5突变，FGF19、CCND1和FGFR2基因存在拷贝数扩增。胃底间质瘤的基因测序分析显示KIT基因存在外显子11非移码缺失突变。这些发现表明，该患者的癌症可能对AZD1775（一种靶向TP53的药物）或FGF19、CCND1和FGFR2等靶向药物敏感，并且应该对伊马替尼敏感。
