Makindo Medical Notes

Turcot's Syndrome is a rare genetic disorder characterized by the association of primary brain tumours and colorectal polyposis. It is inherited in an autosomal dominant manner and has two primary types based on the associated genetic mutations and tumour types.

About

• Autosomal Dominant inheritance.
• Brain tumour polyposis syndrome.
• Equal prevalence in males and females.

Associations

• Familial Adenomatous Polyposis (FAP): Mutations in APC or beta-catenin genes.
• Lynch Syndrome: Mutations in mismatch repair genes (MLH1, PMS2).

Types

Type	Features	Associated Brain Tumour
Type 1	< 100 colonic polyps, large in size, higher malignant potential (MMR defect).	Glioblastoma ("True Turcot Syndrome").
Type 2	Numerous smaller colonic polyps, resembles FAP.	Medulloblastoma.

Clinical Features

• Multiple adenomatous colon polyps: altered bowel habit, anaemia, bleeding.
• Colorectal cancer: abdominal pain, weight loss, anorexia, rectal bleeding.
• Brain tumours (medulloblastoma/glioblastoma): headache, focal deficits, raised ICP.
• Café-au-lait spots (skin).
• Benign lipomas and basal cell carcinoma.

Investigations

• Bloods: FBC, U&E, LFTs, CRP.
• Imaging: CT/MRI brain for tumours; CT abdo/pelvis for staging.
• Endoscopy: Colonoscopy ± biopsy for polyps.
• Genetic Testing: APC, beta-catenin, MLH1, PMS2.

Management

• Genetic counselling for families.
• Surveillance: Regular colonoscopy and brain imaging.
• Surgery: Polyp removal or colectomy; tumour resection when needed.
• Medical: Symptom control and oncological management.

Prognosis

• Depends on early detection and management of colorectal and brain tumours.
• Regular surveillance reduces risk of malignancy.
• Outcomes improved with early brain tumour treatment.

Conclusion

Turcot's Syndrome is a rare but important inherited cancer syndrome linking colorectal polyposis and brain tumours. Early recognition, genetic diagnosis, and multidisciplinary management are essential to improve survival and quality of life.

References

• NORD – Turcot Syndrome
• Medscape – Turcot Syndrome
• NCBI – Turcot Syndrome: A Review
• Mayo Clinic – Familial Adenomatous Polyposis