TY - JOUR
T1 - Familial pineocytoma
AU - Gempt, Jens
AU - Ringel, Florian
AU - Oexle, Konrad
AU - Delbridge, Claire
AU - Förschler, Annette
AU - Schlegel, Jürgen
AU - Meyer, Bernhard
AU - Schmidt-Graf, Friederike
PY - 2012/8
Y1 - 2012/8
N2 - We present the first report on familial pineocytoma. The propositus, a 31-year-old man, presented with incontinence due to a cystic and haemorrhagic tumour of the pineal region. His 34-year-old sister, who had suffered from tinnitus for several years, also had a pineal tumour. Histopathology following tumour resection revealed pineocytomas (WHO grade 1). Cerebral MRI examinations of the patient's brother and father did not reveal any pineal region abnormalities. Their mother had developed breast cancer at the age of 43. Although not impossible, it is rather unlikely that pineocytomas occurring in siblings are pure coincidence because of the rarity of this type of tumour.
AB - We present the first report on familial pineocytoma. The propositus, a 31-year-old man, presented with incontinence due to a cystic and haemorrhagic tumour of the pineal region. His 34-year-old sister, who had suffered from tinnitus for several years, also had a pineal tumour. Histopathology following tumour resection revealed pineocytomas (WHO grade 1). Cerebral MRI examinations of the patient's brother and father did not reveal any pineal region abnormalities. Their mother had developed breast cancer at the age of 43. Although not impossible, it is rather unlikely that pineocytomas occurring in siblings are pure coincidence because of the rarity of this type of tumour.
KW - Autosomal-recessive
KW - Familial pineocytoma
KW - Genetics
KW - Pineal Gland
KW - Pineocytoma
UR - http://www.scopus.com/inward/record.url?scp=84865794036&partnerID=8YFLogxK
U2 - 10.1007/s00701-012-1402-5
DO - 10.1007/s00701-012-1402-5
M3 - Article
C2 - 22699425
AN - SCOPUS:84865794036
SN - 0001-6268
VL - 154
SP - 1413
EP - 1416
JO - Acta Neurochirurgica
JF - Acta Neurochirurgica
IS - 8
ER -