title: Osteosarcoma in patients with Rothmund-Thomson syndrome.
abstract: BACKGROUND
  Rothmund-Thomson syndrome (RTS) is associated with an increased risk of osteosarcoma, but information about affected patients is limited.
  
  
  METHODS
  Seven patients with osteosarcoma, treated in the Cooperative Osteosarcoma Study Group-trials, had a diagnosis of RTS. Their patient-, tumor- and treatment-related variables and outcome were reviewed retrospectively.
  
  
  RESULTS
  Median age at diagnosis of osteosarcoma was 13 years (range 7-16), five were female, two male. Tumor involved proximal tibia (n = 4), distal tibia (n = 1), distal fibula (n = 1) and proximal ulna (n = 1). Three patients had metastatic disease at diagnosis. All patients received surgery and chemotherapy. Four of seven patients required dose modifications and three of them terminated treatment prematurely. Complete resection of the primary tumor was achieved in all individuals. Two of three affected patients failed to achieve surgical clearance of their primary metastases and died. The third patient relapsed with multiple metastases and died. Two of four patients with localized disease were alive in first complete remission, a third patient in second complete remission after recurrence and a fourth patient died of acute leukemia, while still in first complete remission of osteosarcoma.
  
  
  CONCLUSIONS
  Patients with RTS and osteosarcoma may be cured of their cancer with appropriate multimodal therapy. They should be treated like other osteosarcoma patients but preexisting disorders, needs for special support and development of toxicities have to be considered.
authors.affiliation: 1Cooperative Osteosarcoma Study Group (COSS), Pediatrics 5 (Oncology, Hematology, Immunology), Klinikum Stuttgart-Olgahospital , Germany.
authors.forename: Katja
authors.initials: K
authors.lastname: Zils
authors.forename: Thomas
authors.initials: T
authors.lastname: Klingebiel
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Behnisch
authors.forename: Hermann L
authors.initials: HL
authors.lastname: Mueller
authors.forename: Paul-Gerhardt
authors.initials: PG
authors.lastname: Schlegel
authors.forename: Michael
authors.initials: M
authors.lastname: Fruehwald
authors.forename: Meinolf
authors.initials: M
authors.lastname: Suttorp
authors.forename: Thorsten
authors.initials: T
authors.lastname: Simon
authors.forename: Mathias
authors.initials: M
authors.lastname: Werner
authors.forename: Stefan
authors.initials: S
authors.lastname: Bielack
mesh_terms: D000293:Adolescent; D000328:Adult; D001859:Bone Neoplasms / Q000453:epidemiology / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012516:Osteosarcoma / Q000453:epidemiology / Q000628:therapy; D012189:Retrospective Studies; D011038:Rothmund-Thomson Syndrome / Q000453:epidemiology / Q000628:therapy
keywords: Rothmund–Thomson syndrome; cancer predisposition; chemotherapy; osteosarcoma