Uterine carcinosarcoma associated with hereditary nonpolyposis colorectal cancer.
BACKGROUND
Hereditary nonpolyposis colorectal cancer (HNPCC) was originally described as a genetic disorder predominantly involving colorectal cancer. Numerous neoplasms are known to be associated with this condition. Sarcomas have also been reported within families with HNPCC. The challenge is determining if these cancers are sporadic or hereditary.


METHODS
We report on a 46-year-old woman with uterine carcinosarcoma and a family history suspicious for HNPCC. Genetic testing identified a germline MLH1 mutation. Immunohistochemistry testing of the carcinosarcoma revealed loss of MLH1 expression with preservation of MSH2 expression.


CONCLUSIONS
The loss of MLH1 protein expression suggests the germline mutation contributed to the development of the carcinosarcoma. Hereditary nonpolyposis colorectal cancer should be included in the differential diagnosis of persons with uterine carcinosarcoma when noted within a family history suspicious for HNPCC.
Division of Gynecologic Oncology, Department of Surgical Oncology, Clinical Genetics Service, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
Stacey A
SA
South
Mollie
M
Hutton
Carolyn
C
Farrell
Paulette
P
Mhawech-Fauceglia
Kerry J
KJ
Rodabaugh
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D002296:Carcinosarcoma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1