Hereditary diffuse gastric cancer in a 34-year-old man with a CDH1 mutation

This gastric cancer diagnosis at a glance

Stage at diagnosis
Stage III
Subtype
Adenocarcinoma
Biomarkers
CDH1 monoallelic deletion of exons 1-2
Sex
Male
Treatment
chemotherapy and surgery
Outcome
Cancer-Free / NED

Treatment course, step by step

  1. Received 3 cycles of neoadjuvant epirubicin, cisplatin, and capecitabine chemotherapy.
  2. Underwent total gastrectomy and omentectomy.
  3. Received 3 cycles of postoperative combination chemotherapy.

What happened, in summary

A 34-year-old man presented with worsening upper-abdominal pain. Endoscopy found an ulcer in the lower stomach, and biopsy showed poorly differentiated signet ring cell carcinoma. Initial imaging and staging procedures did not show distant spread. He received 3 cycles of preoperative chemotherapy with epirubicin, cisplatin, and capecitabine, and repeat imaging showed the cancer had regressed.

He then underwent total gastrectomy and omentectomy. Surgical pathology showed poorly differentiated gastric adenocarcinoma with signet ring cell features, with 3 of 41 lymph nodes involved and no distant metastases. The pathology classified the cancer as Stage III. Six weeks after surgery, he received 3 additional cycles of combination chemotherapy. He recovered well enough to return to work about 1 month after surgery.

Because several close relatives had developed gastric or breast cancer at young ages, he received genetic counseling. Testing identified a monoallelic deletion of exons 1-2 of the CDH1 gene, supporting hereditary diffuse gastric cancer in the family. At the latest follow-up, he remained under surveillance, his most recent CT showed no active disease, and he had no evidence of disease.

Where this story comes from

This is a lay summary of an account first published by PMC / PubMed Central. Read the original in full

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