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Maitham A. Moslim*, Brandie Heald, Carol A. Burke, R Matthew Walsh
Cleveland Clinic Foundation, University Heights, OH

BACKGROUND: Hereditary diffuse gastric cancer (HDGC) is associated with E-cadherin (CDH1) germline mutations. There is an increasing trend of detecting CDH1 mutations with multigene cancer panels. The implications of CDH1 mutations in those without a family history of gastric cancer are uncertain.

METHODS: A registry of patients who underwent genetic counseling for CDH1 mutation was queried between February 2011 and August 2017.

RESULTS: Twenty-one patients with CDH1 mutation were identified. Most indications for CDH1 genetic screening were family history of HDGC (48%) and young onset of personal or family history of breast cancer (33%). Unsuspected CDH1 mutations were detected in 52% undergoing multigene cancer panels. Eight patients underwent total gastrectomy, five had metastatic gastric cancer at presentation and referred to palliative care (table), five are waiting for or had surgery at an outside hospital and three refused surgery.
Patients who underwent gastrectomy at our institute had a median age of 31 years and were predominately females (75%). Four patients (50%) were known to have gastric cancer based on preoperative screening endoscopy utilizing Cambridge surveillance protocol. Seven (87%) were asymptomatic at diagnosis and had diffuse type (signet-ring) gastric cancer with poor differentiation on final pathology (stage IA). Three out of four patients (75%) who underwent prophylactic gastrectomy had gastric cancer on final pathology. The most common location of cancer was in the fundus (62.5%). Median follow-up is 10.5 months with no recurrence, metastases or mortality.
The metastatic disease group (n=5) consists of symptomatic males with a median age of 40 years. All died with a median of 11 months from diagnosis.
Unsuspected CDH1 carriers were older (median 44 versus 24 years) and more likely to have both metastatic disease and mortality (50% versus 28.6%) compared to patients with family or personal history of HDGC.

CONCLUSIONS: CDH1 mutations associated HDGC are a biologically aggressive variant of gastric cancer. Curative total gastrectomy is achieved in asymptomatic patients, however symptomatic patients were found to have terminal disease with fatal outcome. Unsuspected CDH1 carriers are becoming increasingly diagnosed on multigene panels which at a minimum warrant genetic counseling and aggressive screening endoscopic examinations.

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