title: Glioblastoma multiforme associated with klinefelter syndrome.
abstract: A 54-year-old man with Klinefelter syndrome presented with glioblastoma multiforme manifesting as a 2-week history of motor weakness of the bilateral extremities. Magnetic resonance imaging showed multiple heterogeneously enhanced tumors in the bilateral frontal lobes. Angiography showed no tumor stain or arteriovenous shunt. The tumor was partially removed through a right craniotomy. The histological diagnosis was glioblastoma. Immunohistochemical examination showed no O(6)-methylguanine-deoxyribonucleic acid methyltransferase protein expression. Postoperative local radiotherapy (60 Gy/30 fractions) combined with temozolomide (75 mg/m(2) x 42 days) and interferon-beta (3,000,000 U, 3 times/week) was performed. The patient's clinical status rapidly deteriorated during chemoradiotherapy, and he died of tumor progression 3.5 months after the surgery. Postmortem examination revealed widespread glioblastoma infiltrating the basal ganglia and thalamus. Klinefelter syndrome is associated with increased cancer predisposition, especially for male breast cancer and germ cell tumors, but glioma is extremely rare. The abnormal genetic constitution of this patient may have been directly responsible for the poor outcome.
authors: Department of Neurosurgery, Kobe University Graduate School of Medicine, Kobe, Hyogo. Japan. takasasa@med.kobe-u.ac.jp
authors: Takashi
authors: T
authors: Sasayama
authors: Katsu
authors: K
authors: Mizukawa
authors: Yoshio
authors: Y
authors: Sakagami
authors: Takashi
authors: T
authors: Mizowaki
authors: Kazuhiro
authors: K
authors: Tanaka
authors: Chiho
authors: C
authors: Ohbayashi
authors: Kiyoshi
authors: K
authors: Mori
authors: Sohei
authors: S
authors: Kitazawa
authors: Eiji
authors: E
authors: Kohmura
mesh_terms: D001479:Basal Ganglia / Q000473:pathology; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D003399:Craniotomy; D018450:Disease Progression; D004358:Drug Therapy; D017809:Fatal Outcome; D005625:Frontal Lobe / Q000473:pathology / Q000601:surgery; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005909:Glioblastoma / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009361:Neoplasm Invasiveness / Q000235:genetics / Q000473:pathology; D019635:Neurosurgical Procedures; D020335:Paraparesis / Q000209:etiology; D011878:Radiotherapy; D013788:Thalamus / Q000473:pathology; D017211:Treatment Failure