Turcot’s syndrome confirmed by molecular biological tests

Turcot’s syndrome (Turcot et al. 1959) is clinically characterized by the co-existence of a primary brain tumour with familial adenomatous polyposis or hereditary non-polypotic colorectal carcinoma.

This paper reports a 45 year-old woman who presented in 1995 with an anaplastic astrocytoma (grade III, WHO classification). Treatment included surgery, radiotherapy, first and second line chemotherapy (nitrosourea followed by a platinum salt). It was then recognized that the patient’s brother had colorectal cancer. A genetic study detected a germ-line mutation on the hMSH2 gene, specific for HNPCC (human non-polypotic colorectal cancer). Colonoscopy was normal. Eight years after diagnosis the patient developed a cerebral glioma.

An indicative personal or familial history may provide clues to the diagnosis of Turcot’s syndrome. Molecular diagnosis may contribute to the choice of appropriate treatment.

30 references.