Case series of three patients with hereditary diffuse gastric cancer in a single family: Three case reports and review of literature

Figure 1 Pedigree of this family. Several individuals with gastric cancer were confirmed in this family. In addition to Cases 1, 2 and 3, the CDH1 c.1679C>G variant was detected in II-4 and III-15 by further genetic analysis. GC: Gastric cancer; BC: Breast cancer; HCC: Hepatocellular carcinoma.

Figure 2 Representative images obtained from esophagogastroduodenoscopy and computed tomography in Case 1. A and B: Advanced gastric cancer was observed at the posterior wall of the lower gastric body (A) and at the lesser curvature of the middle body (B) in esophagogastroduodenoscopy; C: Metastatic lymph nodes were detected at the lesser curvature of the proximal stomach by abdominal computed tomography (CT) (orange arrows); D: Abdominal CT showed ovarian metastasis during adjuvant chemotherapy (orange arrow).

Figure 3 Representative images obtained from esophagogastroduodenoscopy, colonoscopy and computed tomography in Case 2. A: Advanced gastric cancer was observed at the fundus in esophagogastroduodenoscopy; B: Colonoscopy showed advanced colon cancer at the ascending colon; C: Metastatic lymph nodes at the lesser curvature of the proximal stomach without distant metastasis were identified by abdominal computed tomography (CT) (orange arrow); D: Peritoneal dissemination were observed by abdominal CT during the adjuvant chemotherapy (orange arrow).

Figure 4 Representative images obtained from esophagogastroduodenoscopy and pathological findings in Case 3. A: Multiple small pale lesions were observed mainly at the greater curvature of the gastric body in esophagogastroduodenoscopy (white and black arrows); B: Clearly isolated whitish areas were detected by non-magnifying narrow band imaging (NBI). The image is the lesion indicated by the black arrow in (A); C: Magnifying NBI detected wavy microvessels inside the lesions; D: A gastrectomy mapping study revealed 36 signet ring cell carcinoma (SRCC) foci in the entire gastric mucosa. Red lines indicate SRCC foci; E: Hematoxylin and eosin staining (upper panel) and immunohistochemistry for E-cadherin (lower panel) of the lesion. Loss of immunoreactivity at SRCC foci was confirmed.