title: Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q.
abstract: OBJECTIVE
  Classic autosomal-dominant familial adenomatous polyposis (FAP) is clinically defined by the development of hundreds to thousands of colorectal adenomas beginning in childhood and adolescence. A variant of FAP characterized by polyposis in combination with osteomas or soft tissue tumours is called Gardner's syndrome. FAP is caused by germline inactivation of the APC (adenomatous polyposis coli) tumour-suppressor gene located on the long arm of chromosome 5 (5q21-5q22). Cytogenetically visible deletions of chromosome 5q encompassing APC have very rarely been reported. Here, we aimed to phenotypically and genetically characterize a patient with a heterozygous 5q deletion resulting in Gardner's syndrome.
  
  
  RESULTS
  A 26-year-old female patient with mild mental handicap and dysmorphic features due to a cytogenetically visible deletion on chromosome 5q (microscopically estimated region 5q14-5q23) presented at our tertiary referral centre because of mild adenomatous polyposis (<500 polyps). Twenty months after prophylactic proctocolectomy with definitive ileostomy, three rapidly growing desmoids were observed. Tumour-associated complications necessitated a multidisciplinary approach including medical treatment, surgery and radiation therapy. The characterization of the deletion by comparative genomic hybridization identified a large 5q deletion expanding over a 20-Mb region (5q21.3-5q23.3) including the APC gene.
  
  
  CONCLUSIONS
  Chromosome deletions must be suspected in patients presenting with FAP together with mental handicap and dysmorphic features. This case also impressively shows that FAP-associated desmoids need multimodal treatment taking into account the patient's individual symptoms, disease progression and tumour location.
authors.affiliation: From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany markus.casper@uks.eu.
authors.forename: M
authors.initials: M
authors.lastname: Casper
authors.affiliation: From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Petek
authors.affiliation: From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Henn
authors.affiliation: From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Niewald
authors.affiliation: From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Schneider
authors.affiliation: From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany.
authors.forename: V
authors.initials: V
authors.lastname: Zimmer
authors.affiliation: From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Lammert
authors.affiliation: From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Raedle
mesh_terms: D000008:Abdominal Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003131:Combined Modality Therapy; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D018222:Desmoid Tumors / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D005736:Gardner Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008279:Magnetic Resonance Imaging