KRAS, KIT and TP53 mutations in mother’s and daughter’s gastric cardia adenocarcinomas

Currently in gastric and gastroesophageal adenocarcinoma two genes are the focus of special concern in the perspective of target therapy: ERBB2 (HER2/NEU) (17q) (human epidermal growth factor receptor 2 (HER2)) and KRAS (12p), whose amplifications can be detected with fluorescence in situ hybridization (FISH) both in primary tumors and metastases [1]. The high possibility of gene defects is raised whenever a cancer of the same organ is diagnosed in close relatives. Therefore, here we present the cases of two gastric cardia adenocarcinomas of a 57-year-old woman and her 39-year-old daughter with extensive gene profiling that goes beyond determination of only KRAS and HER2 status.
We present a case report of two gastric adenocarcinomas of a 57-year-old woman and her 39-year-old daughter. These were mucocellular carcinoma of diffuse Lauren type (signet ring cell carcinoma) and poorly differentiated adenocarcinoma G3, respectively. Both of the tumors were located in ventricular cardia. The patients were subjected to Ivor-Lewis esophagogastrectomy. Maternal carcinoma of diffuse type was mucicarmine positive and was staged as pT3N1 and was ulcerated 5 × 3 cm in dimensions. The tumor macroscopically invaded the whole thickness of stomach wall and infiltrated adjacent adipose tissue without involvement of the radial resection margin. Lymph nodes from the vicinity of the hepatic artery and periaortic, mediastinal nodes were free of metastases. In microscopic evaluation mucocellular cancer invaded the tunica muscularis propria and tunica subserosa to be found in close proximity of the radial resection margin. Another poorly differentiated adenocarcinoma was clinically designated as a tumor of the esophagus and cardia of the daughter. It consisted partially of tube-like structures with mucin production (mucicarmine+) in luminal spaces. The tumor presented some doubtful HER-2 reaction but without apparent membranous immunolocation. Thus we performed chromogenic in situ hybridisation (CISH) to find the normal status of HER2 without amplification. The postoperative material included the whole stomach, which was 12 cm long along the lesser curvature and 17 cm long along the greater with an ulcerative, cauliflower-like 7 cm-in-diameter tumor that infiltrated the whole thickness of the tumor at the distance of 3 cm from the proximal resection margin. The tumor was diagnosed as poorly differentiated adenocarcinoma G3 pT4a N3b of the gastric cardia and distal part of...


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