Glioblastoma multiforme associated with klinefelter syndrome.
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.
Sasayama
Takashi
T
Department of Neurosurgery, Kobe University Graduate School of Medicine, Kobe, Hyogo. Japan. takasasa@med.kobe-u.ac.jp
Mizukawa
Katsu
K
Sakagami
Yoshio
Y
Mizowaki
Takashi
T
Tanaka
Kazuhiro
K
Ohbayashi
Chiho
C
Mori
Kiyoshi
K
Kitazawa
Sohei
S
Kohmura
Eiji
E
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