title: Papillary tumor of the pineal region with synchronous suprasellar focus and novel cytogenetic features.
abstract: Papillary tumor of the pineal region (PTPR) is an uncommon neoplasm with variable biologic behavior. Cytogenetic and molecular diagnostic studies are rare, yielding no definitive genetic signature. We report a case of PTPR with a multicentric presentation and unusual cytogenetic features. A 25-year-old man presented with headache, disconjugate gaze, and confusion. Mass lesions in the pineal and suprasellar regions, with identical imaging characteristics, were identified. The former extended partially into the fourth ventricle. It showed typical PTPR histology and losses of chromosomes 3, 7, 10, 14, 18, and Y with gains of chromosomes 3, 8, and 9. Seventeen months postsurgery, the patient is stable without disease progression after radiation therapy. Synchronous mass lesions at presentation and losses of chromosomes 3, 7, 14, 18, and Y are unusual features, adding to the available data and underscoring the biologic and genetic variability associated with these neoplasms.
authors.affiliation: Department of Pathology/Neuropathology, Vanderbilt University School of Medicine, Nashville, TN 37232.
authors.forename: Bret C
authors.initials: BC
authors.lastname: Mobley
authors.affiliation: Department of Radiology/Neuroradiology, University of Arkansas for Medical Sciences, Little Rock, AR 72205.
authors.forename: Manoj
authors.initials: M
authors.lastname: Kumar
authors.affiliation: Human Genetics Laboratory, University of Nebraska Medical Center, Omaha, NE 68198.
authors.forename: Warren G
authors.initials: WG
authors.lastname: Sanger
authors.affiliation: Human Genetics Laboratory, University of Nebraska Medical Center, Omaha, NE 68198.
authors.forename: Marilu
authors.initials: M
authors.lastname: Nelson
authors.affiliation: Department of Pathology/Neuropathology, Vanderbilt University School of Medicine, Nashville, TN 37232.
authors.forename: Hilary H
authors.initials: HH
authors.lastname: Nickols
authors.affiliation: Department of Neurologic Surgery, Vanderbilt University School of Medicine, Nashville, TN 37232.
authors.forename: Lola B
authors.initials: LB
authors.lastname: Chambless
authors.affiliation: Department of Pathology/Neuropathology, University of Arkansas for Medical Sciences, Little Rock, AR 72205. Electronic address: mgokden@uams.edu.
authors.forename: Murat
authors.initials: M
authors.lastname: Gokden
mesh_terms: D000328:Adult; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology*; D003131:Combined Modality Therapy; D020732:Cytogenetic Analysis; D006801:Humans; D008297:Male; D019635:Neurosurgical Procedures; D010871:Pinealoma / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D011878:Radiotherapy
keywords: Circumventricular organs; Cytogenetics; Multifocal; Papillary tumor of the pineal region; Suprasellar