title: Adult recurrent pilocytic astrocytoma: Clinical, histopathological and molecular study.
abstract: BACKGROUND
  PA is a grade I glial tumor that mostly occurs in children. However, although apparently similar to paediatric PA, adult PA presents a different clinical follow-up that could arise from specific molecular alterations. A variety of genetic alterations have been identified as diagnostic or prognostic glioma molecular markers.
  
  
  METHODS
  We describe a right infratentorial tumor that occurred in a 58-year-old man. Neuroimaging and neuropathological examination suggested PA as an initial diagnosis. The tumor was completely resected. Unexpectedly, two years later, a rapidly growing tumor on the operative site was observed with a second location in the pineal region. Immunohistochemical reactions (IHC), Multiplex ligation probe amplification (MLPA) and fluorescence in situ hybridization (FISH) was performed in both primary and relapse tumor.
  
  
  RESULTS
  Neuroimaging and neuropathological examinations suggested an unusual diagnosis for adult patients: a recurrent PA. Both MLPA and FISH analysis contribute to diagnostic confirmation by KIAA1549: BRAF fusion detection. Additional genetic results revealed interesting findings that justified the tumor aggressivity.
  
  
  CONCLUSIONS
  Molecular analysis of adult PA cases should be routinely combined with histopathological and neuroimaging examination to further refine prognostic diagnoses.
authors.affiliation: Department of Cytogenetics, Molecular genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn Eljazzar, 4000 Sousse, Tunisia. Electronic address: tsaoussen@yahoo.fr.
authors.forename: S
authors.initials: S
authors.lastname: Trabelsi
authors.affiliation: Department of Imagery, Sahloul University Hospital, Sousse, Tunisia.
authors.forename: N
authors.initials: N
authors.lastname: Mama
authors.affiliation: Department of Neurosurgery, Sahloul University Hospital, Sousse, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Ladib
authors.affiliation: Divisions of Molecular Pathology and Cancer Therapeutics, the Institute of Cancer Research, Sutton, United Kingdom.
authors.forename: S
authors.initials: S
authors.lastname: Popov
authors.affiliation: Divisions of Molecular Pathology and Cancer Therapeutics, the Institute of Cancer Research, Sutton, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: Burford
authors.affiliation: Department of Cytopathology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Mokni
authors.affiliation: Department of Imagery, Sahloul University Hospital, Sousse, Tunisia.
authors.forename: K
authors.initials: K
authors.lastname: Tlili
authors.affiliation: Department of Neurosurgery, Sahloul University Hospital, Sousse, Tunisia.
authors.forename: H
authors.initials: H
authors.lastname: Krifa
authors.affiliation: University of Colorado Denver School of Medicine, Division of Medical Oncology, Colorado, USA.
authors.forename: M
authors.initials: M
authors.lastname: Varella-Garcia
authors.affiliation: Divisions of Molecular Pathology and Cancer Therapeutics, the Institute of Cancer Research, Sutton, United Kingdom.
authors.forename: C
authors.initials: C
authors.lastname: Jones
authors.affiliation: Department of Cytopathology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Tahar Yacoubi
authors.affiliation: Department of Cytogenetics, Molecular genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn Eljazzar, 4000 Sousse, Tunisia.
authors.forename: A
authors.initials: A
authors.lastname: Saad
authors.affiliation: Department of Cytogenetics, Molecular genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn Eljazzar, 4000 Sousse, Tunisia.
authors.forename: D
authors.initials: D
authors.lastname: H'mida Ben Brahim
mesh_terms: D001254:Astrocytoma / Q000175:diagnosis*; D006801:Humans; D015192:Infratentorial Neoplasms / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis*
keywords: Adult; Adulte; Astrocytome pilocytique; Gène de fusion KIAA1549:BRAF; KIAA1549:BRAF fusion; Pilocytic astrocytoma; Recurrence; Récidive