title: Primary orbital liposarcoma in Li-Fraumeni cancer family syndrome: a case report.
abstract: OBJECTIVE
  The aim of this study was to describe a case of primary orbital liposarcoma in Li-Fraumeni syndrome.
  
  
  METHODS
  In July 1998 a 20-year-old woman with a histological diagnosis of orbital myxoid liposarcoma underwent surgical treatment in our department. Since the patient's family pedigree met the clinical criteria for the diagnosis of LFS, molecular analysis was performed, which resulted in a molecular profile consistent with Li-Fraumeni syndrome.
  
  
  RESULTS
  The patient underwent orbital exenteration extended to the upper eyelid; surgical reconstructive steps were performed to permit placement of an orbital prosthesis. Two years after primary surgery the patient underwent a quadrantectomy with lymphadenectomy of the right axilla because of the presence of a nodule of 1.5 cm in diameter in the upper-lateral quadrant of the right breast. One year after the last surgery, the patient is disease free.
  
  
  CONCLUSIONS
  The diagnosis of an orbital malignancy in a young patient with a family history of cancer should suggest the presence of an underlying genetic disorder like LFS; with molecular analysis we can now determine the genetic disorder and the exact location of the mutation, and also obtain important prognostic data using specific cellular markers. More prognostic information increases the chances of adequate personalized treatment.
authors.affiliation: Division of Maxillofacial Surgery, University of Parma, Italy. titopolimd@hotmail.com
authors.forename: Tito
authors.initials: T
authors.lastname: Poli
authors.forename: Francesco
authors.initials: F
authors.lastname: Laganà
authors.forename: Luigi
authors.initials: L
authors.lastname: Caradonna
authors.forename: Roberta
authors.initials: R
authors.lastname: Gobbi
authors.forename: Domenico
authors.initials: D
authors.lastname: Corradi
authors.forename: Enrico
authors.initials: E
authors.lastname: Sesenna
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics; D005260:Female; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000150:complications* / Q000175:diagnosis*; D008080:Liposarcoma / Q000235:genetics* / Q000473:pathology; D009918:Orbital Neoplasms / Q000235:genetics* / Q000473:pathology