Successful treatment of a patient with Turcot syndrome

Abstract

We report a case of successful treatment of a 15-year-old female patient (body mass index 16) diagnosed with Turcot syndrome (familial adenomatous polyposis of the colon) combined with multiple primary malignant tumors, including anaplastic astrocytoma (received combination therapy in 2007), metachronous cecal cancer (underwent subtotal colectomy and 12 courses of polychemotherapy in 2016–2017), and metachronous stage III pT3N1M0 rectal cancer at 8 cm. The patient underwent laparoscopic low resection with extirpation of the ileosigmoid anastomosis, creation of a reservoir-rectal anastomosis, and preventive ileostomy. The patient had minimal intraoperative blood loss and uneventful postoperative period (with an accelerated rehabilitation protocol). She was discharged from a hospital on day 9. Considering previous treatment episodes and the disease stage, we also included into the treatment regimen adjuvant FOLFOX polychemotherapy in a reduced dose for 6 months. During one-year follow up, there was no evidence of disease progression. Later, the patient underwent ileostomy closure with forming a side-to-side mechanical anastomosis. The patient is fully rehabilitated in term of her social activity.

Keywords

• turcot syndrome
• familial adenomatous polyposis of the colon
• constitutional mismatch repair-deficiency syndrome