Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

Abstract

Background Hereditary diffuse gastric cancer is a rare condition that accounts for approximately 1–3% of all gastric cancer cases. Due to its rapid and invasive growth pattern, it is associated with a very poor prognosis. As a result, comprehensive genetic testing is imperative in patients who meet the current testing criteria in order to identify relatives at risk. This case report illustrates the substantial benefit of genetic testing in the family of a patient diagnosed with hereditary diffuse gastric cancer. Case presentation A 37-year-old patient was admitted to the emergency department with acute abdominal pain. Following explorative laparoscopy, locally advanced diffuse gastric cancer was diagnosed. The indication for genetic testing of CDH1 was given due to the patient’s young age. A germline mutation in CDH1 was identified in the index patient. As a result, several family members underwent genetic testing. The patient’s father, brother and one aunt were identified as carriers of the familial CDH1 mutation and subsequently received gastrectomy. In both the father and the aunt, histology of the surgical specimen revealed a diffuse growing adenocarcinoma after an unremarkable preoperative gastroscopy. Conclusion Awareness and recognition of a potential hereditary diffuse gastric cancer can provide a substantial health benefit not only for the patient but especially for affected family members.

Diffuse type gastric adenocarcinoma with atypical presentation: A case report

“…17 The instance of gastric adenocarcinoma that is being reported defies standard diagnostic assumptions and highlights the importance of identifying unusual symptoms. 3,6,8,18,19 The skeleton is a common metastatic site for certain tumors, including breast and prostate cancers. Bone involvement is unusual in gastric tumors.…”

“…The clinical symptoms of gastric cancer in symptomatic patients may include vomiting, dyspepsia, dysphagia, early satiety, weight loss, and/or iron deficiency anemia 17 . The instance of gastric adenocarcinoma that is being reported defies standard diagnostic assumptions and highlights the importance of identifying unusual symptoms 3,6,8,18,19 …”

“… 17 The instance of gastric adenocarcinoma that is being reported defies standard diagnostic assumptions and highlights the importance of identifying unusual symptoms. 3 , 6 , 8 , 18 , 19 …”

“…The most common presenting symptoms and signs of gastric adenocarcinoma include abdominal pain, nausea and vomiting, indigestion, unintentional weight loss, anemia, and palpable gastric lump 3,4,6,7 . Occasionally, there are atypical presentations including low back pain and respiratory symptoms indicating an advanced stage of adenocarcinoma especially in the younger demographic without obvious gastrointestinal signs and symptoms 8 . This highlights a need for clinicians to have heightened suspicion of gastric adenocarcinoma in younger patients from regions with prevalent infectious diseases and broadening differentials.…”

“… 3 , 4 , 6 , 7 Occasionally, there are atypical presentations including low back pain and respiratory symptoms indicating an advanced stage of adenocarcinoma especially in the younger demographic without obvious gastrointestinal signs and symptoms. 8 This highlights a need for clinicians to have heightened suspicion of gastric adenocarcinoma in younger patients from regions with prevalent infectious diseases and broadening differentials. Incorporation of advanced imaging techniques such as Magnetic Resonance Imaging (MRI) spine and chest computed tomography (CT) scan during diagnostic workup is clinically significant.…”