Robot-Assisted Total Gastrectomy for Juvenile Polyposis Syndrome-Associated Gastric Cancer Performed in a Patient...

Factor XIII deficiency (FXIIID) is a rare coagulation disorder that can cause severe or delayed bleeding and impair wound healing despite normal routine coagulation test results. Congenital FXIIID is caused by homozygous germline pathogenic variants of F13A or F13B. Herein, we report the successful treatment of a patient with FXIIID who underwent surgery for juvenile polyposis syndrome (JPS)-associated early gastric cancer.

A 44-year-old woman was admitted to the hospital with anemia secondary to menorrhagia. Gastrointestinal examination revealed polyposis throughout the stomach and type 0-Is early gastric cancer, which was consistent with the histological diagnosis of the biopsy specimens. Investigation into her family history revealed that her mother and maternal aunt had gastric polyposis. Preoperative laboratory tests were almost normal, except for low levels of hemoglobin (6.0 g/dL) and Factor XIII (FXIII) activity (31%). Robot-assisted total gastrectomy with D1-level lymph node dissection, followed by Roux-en-Y reconstruction, was successfully performed, with an operative time of 347 min and estimated blood loss of 26 mL. To prevent surgery-related bleeding, preoperative and postoperative administration of FXIII concentrate (30 IU/kg) was planned. The postoperative course was uneventful, and the patient was discharged on POD 9. Genetic testing identified a germline pathogenic frameshift variant in SMAD4 (c.96delT [p.Ser32fs*13]), which was consistent with the phenotype of JPS, and a heterozygous missense variant of uncertain significance in F13A1 (c.308A>T [p.Glu103Val]). Nine months postoperatively, FXIII activity was re-evaluated and remained low at 59%, although it was higher than the preoperative level.

Recognition of FXIIID and appropriate perioperative management may help prevent unexpected bleeding and enable safe gastrectomy in patients with FXIIID.