Prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer

Area of Science:

• Oncology
• Genetics
• Surgical Oncology

Background:

• Hereditary diffuse gastric cancer (HDGC) accounts for a significant portion of familial gastric cancer cases.
• Mutations in the CDH1 tumor suppressor gene are a primary cause of HDGC, leading to high mortality without early diagnosis.
• Current cancer screening efficacy for HDGC mutation carriers remains unproven, creating management controversies.

Observation:

• A 53-year-old woman with a strong family history of gastric cancer and confirmed CDH1 germline mutation underwent genetic screening.
• Despite a normal-appearing gastric mucosa and biopsies during endoscopy, the patient had a history consistent with HDGC.
• The patient underwent a laparoscopic total gastrectomy for prophylactic management.

Findings:

• Histologic examination revealed diffuse adenocarcinoma in situ with microscopic foci of invasive adenocarcinoma, despite normal gross and endoscopic findings.
• The presence of occult adenocarcinoma highlights the limitations of endoscopic screening in HDGC.
• This case represents the first reported prophylactic total gastrectomy using a laparoscopic approach for HDGC.

Implications:

• Thorough family history and pedigree analysis are crucial for identifying individuals at risk for HDGC.
• Endoscopic screening alone is insufficient to rule out diffuse gastric cancer in HDGC mutation carriers.
• Prophylactic total gastrectomy should be strongly considered for individuals with HDGC due to the potential for undetected, invasive disease.