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Introduction. Turcot’s syndrome is characterized clinically by the concurrence of a primary brain tumor and a familial adenomatous polyposis or a hereditary nonpolyposis colorectal cancer. Observation. We report a case of a 45-year-old woman who underwent in 1995 neuro-oncological treatment for an anaplastic astrocytoma (grade III according to the World Health Organization classification). Treatment included complete surgery, radiotherapy, a first-line nitrosourea-based chemotherapy regimen and a second-line platinium salt-based regimen. It was then noted that the patient’s brother had colorectal cancer. A genetic study detected a germ-line mutation on the hMSH2 gene specific of HNPCC syndrome (Human Non Polyposis Colorectal Cancer). Colonoscopy was normal. Eight years after the diagnosis, the patient developed a gliomatosis cerebri and died. Conclusion. Relevant personal and familial history can provide the clue to the diagnosis of Turcot’s syndrome. Molecular diagnosis may contribute to appropriate care of affected patients.
Introduction. Turcot’s syndrome is characterized clinically by the concurrence of a primary brain tumor and a familial adenomatous polyposis or a hereditary nonpolyposis colorectal cancer. Observation. We report a case of a 45-year-old woman who underwent in 1995 neuro-oncological treatment for an anlastic astrocytoma (grade III according to the World Health Organization classification). Treatment included complete surgery, radiotherapy, a first-line nitrosourea-based chemotherapy regimen and a second-line platinium salt-based regimen. It was then noted that the patient’s brother had colorectal cancer. A genetic study detected germ-line mutation on the hMSH2 gene specific of HNPCC syndrome (Human Non-Polyposis Colorectal Cancer). Colonoscopy was normal. Eight years after the diagnosis, the patient developed a gliomatosis cerebri and died. Conclusion. Relevant personal and familial history can provide the clue to the diagnosis of Turcot’s syndrome. Molecular diagnosis may cont ribute to appropriate care of affected patients.