Surgery Definition – What is Turcot’s Syndrome?
Surgery Definition – What is Turcot’s Syndrome?
Turcot’s syndrome is a polyposis of the colon with progression to carcinoma and strong association with brain tumours. Turcot’s syndrome is an autosomal dominant and appear symptomatic by 20 years of age. Turcot’s syndrome carries poor prognosis due to the effect of the supratentorial brain tumours and death by the age of 20s – 30s.
Pathologically, Turcot’s syndrome may present with polyps covering the colon and the present of the supratentorial gliomas with medulloblastomas.
Clinically, Turcot’s syndrome may present with vague abdominal pain ,diarrhea and per rectum bleeding with café au lait spot and seizures.
The investigation ofTurcot’s Syndrome may include double contrast barium enema and colonoscopy, genetic screening for the present of the mutation of the APC gene on chromosome 5q.
The treatment for the Turcot’s Syndrome may include subtotal colectomy with the formation of ileorectal anastomosis and the destruction of the rectal polyps. Follow up is required every 6 months for the remaining life of the patient to destroy the rectal polyps.
In case rectal cancer formation, abdominoperineal resection and permanent ileostomy is needed.
Alternative treatment may include prophylactic panproctocolectomy may be performed.
The screening may include annual sigmoidoscopy for first degree relative from puberty until formation of the adenoma or even when there are negative for APC gene mutation in genetic screening. If genetic screening is not available, consider annual sigmoidoscopy until 25 years of age and every 2 years until the age of 35.
Turcot’s syndrome is a polyposis of the colon with progression to carcinoma and strong association with brain tumours. Turcot’s syndrome is an autosomal dominant and appear symptomatic by 20 years of age. Turcot’s syndrome carries poor prognosis due to the effect of the supratentorial brain tumours and death by the age of 20s – 30s.
Pathologically, Turcot’s syndrome may present with polyps covering the colon and the present of the supratentorial gliomas with medulloblastomas.
Clinically, Turcot’s syndrome may present with vague abdominal pain ,diarrhea and per rectum bleeding with café au lait spot and seizures.
The investigation ofTurcot’s Syndrome may include double contrast barium enema and colonoscopy, genetic screening for the present of the mutation of the APC gene on chromosome 5q.
The treatment for the Turcot’s Syndrome may include subtotal colectomy with the formation of ileorectal anastomosis and the destruction of the rectal polyps. Follow up is required every 6 months for the remaining life of the patient to destroy the rectal polyps.
In case rectal cancer formation, abdominoperineal resection and permanent ileostomy is needed.
Alternative treatment may include prophylactic panproctocolectomy may be performed.
The screening may include annual sigmoidoscopy for first degree relative from puberty until formation of the adenoma or even when there are negative for APC gene mutation in genetic screening. If genetic screening is not available, consider annual sigmoidoscopy until 25 years of age and every 2 years until the age of 35.