P2A220: Rare but There: An Anastomotic Leak Status-post Gastrectomy in an Adolescent Male with a Pathologic Variant for CDH1 Gene Associated with Hereditary Diffuse Gastric Cancer

Introduction: Patients with a family history of gastric cancer are at risk for developing the disease and may choose to undergo prophylactic gastrectomy. Complications from the procedure are rare. Yet, this case report examines one uncommon complication – anastomotic leak.

Case Description: A 14-year-old male with heterozygosity for a pathogenic variant of CHD1 presents to the Pediatric Intensive Care Unit following a laparoscopic total gastrectomy, esophagojejunostomy, and jejunojunostomy in Roux-en-Y reconstruction. Biopsies taken were positive for signet ring type adenocarcinoma (invasion into the lamina propria but no lymphovascular or perineural invasions). Following the procedure, he had increased work of breathing. A CXR indicated a left-sided pneumothorax (Figure 1). Supplemental oxygen was started and a pigtail chest tube was inserted. An esophagram on the second post-operative day confirmed the presence of an anastomotic leak with extravasation of contrast in the distal esophagus at the level of the diaphragm into the left pleural space. This necessitated placement of anterior and lateral chest tubes. The patient was started on broad-spectrum antibiotics given concerns for sepsis. Due to this worsening clinical status, a CT scan was obtained and showed the presence of a large left-sided hydropneumothorax (Figure 2). Over the hospital stay, the patient’s chest tubes drained (albeit slow) and interval CXRs were stable. A repeat esophagram two weeks after his surgical procedure now confirmed the resolution of the anastomotic leak.

Discussion: Germline CDH1 mutations confer a high risk of developing diffuse gastric cancer. Given this mortality, prophylactic total gastrectomy is advised for individuals with pathogenic CDH1 mutations.1, Kim et al found the rate of anastomotic leakage to be 1.88%. Another study estimated it to be 5.8%. Unfortunately in pediatrics, data is limited for risk of anastomotic leakage in prophylactic total gastrectomy for CDH1 mutations likely secondary to the rarity of this procedure done in this patient population. If the frequency of said procedure would increase, it is plausible that the complication would be more prevalent. For example, esophageal atresia and tracheoesophageal fistula surgical repairs are common; the incidence of leakage has been reported to be around 15%.

Conclusion: While an anastomotic leak after prophylactic total gastrectomy is rare, it should be considered in the differential diagnosis during the post-operative period in patients presenting with signs and symptoms of respiratory distress. With that said, as advances in genetic testing and counseling are made, the age at which prophylactic total gastrectomy is considered may lower and the frequency of the performed procedure may increase. This could pave the way for anastomotic leaks as complications and increase their prevalence. Therefore, they should also be explained when risks versus benefits of a prophylactic total gastrectomy are discussed to the families of children with the CDH1 mutation.