[Turcot's syndrome confirmed by molecular biological tests].
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
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.
Jeannin
S
S
Service de Neurologie, Hôpital Pasteur, Nice.
Lebrun
C
C
Van Den Bos
F
F
Olschwang
S
S
Bourg
V
V
Frenay
M
M
D048868:Adaptor Proteins, Signal Transducing; D018256:Adenomatous Polyps / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D001932:Brain Neoplasms / Q000150:complications* / Q000473:pathology / Q000628:therapy; D002352:Carrier Proteins / Q000235:genetics*; D003113:Colonoscopy / Q000379:methods; D015179:Colorectal Neoplasms / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis / Q000379:methods*; D017809:Fatal Outcome; D005260:Female; D005910:Glioma / Q000150:complications* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein