Trilateral retinoblastoma: neuroimaging characteristics and value of routine brain screening on admission.
Trilateral retinoblastoma (TRb) is a rare disease associating intraocular retinoblastoma with intracranial primitive neuroectodermal tumor. Treatment is difficult and prognosis is poor. This multicenter study evaluates clinical findings and MR imaging characteristics of associated intracranial tumors in Rb patients. Clinical data of 17 patients (16 TRb and 1 quadrilateral Rb patients) included time intervals between Rb and TRb diagnosis and presence of baseline brain-imaging (BBI). Two reviewers reviewed all images individually and one reviewer per center evaluated their images. Consensus was reached during a joint scoring session. Studies were reviewed for tumor location, size and imaging characteristics (signal intensity (SI) on T1- and T2-weighted images, enhancement pattern and cystic appearance). Of 18 intracranial tumors, 78 % were located in the pineal gland and 22 % suprasellar. All tumors showed well-defined borders with mostly heterogenous enhancement (72 %) and isointense SI on T1- (78 %) and T2-weighted images (72 %) compared to gray matter. The majority of pineal TRbs showed a cystic component (57 %). TRb detected synchronously with the intraocular tumors on BBI (n = 7) were significantly smaller (P = 0.02), and mainly asymptomatic than TRb detected later on (n = 10). Overall, 5-year-survival of TRb patients detected on BBI was 67 % (95 % CI 29-100 %) compared to 11 % (95 % CI 0-32 %) for the group with delayed diagnosis. TRb mainly develops in the pineal gland and frequently presents with a cystic appearance that could be misinterpreted as benign pineal cysts. Routine BBI in all newly diagnosed Rb patients can detect TRb at a subclinical stage.
Department of Radiology, VU University Medical Center, Postbox 7057, 1007 MB, Amsterdam, The Netherlands. f.rodjan@vumc.nl
Firazia
F
Rodjan
Pim
P
de Graaf
Hervé J
HJ
Brisse
Sophia
S
Göricke
Philippe
P
Maeder
Paolo
P
Galluzzi
Isabelle
I
Aerts
Claire
C
Alapetite
Laurence
L
Desjardins
Regina
R
Wieland
Maja Beck
MB
Popovic
Manuel
M
Diezi
Francis L
FL
Munier
Theodora
T
Hadjistilianou
Dirk L
DL
Knol
Annette C
AC
Moll
Jonas A
JA
Castelijns
D001932:Brain Neoplasms / Q000401:mortality / Q000473:pathology*; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D053208:Kaplan-Meier Estimate; D008279:Magnetic Resonance Imaging; D017599:Neuroectodermal Tumors / Q000401:mortality / Q000473:pathology*; D059906:Neuroimaging; D010343:Patient Admission; D010871:Pinealoma / Q000401:mortality / Q000473:pathology; D019572:Retinal Neoplasms / Q000401:mortality / Q000473:pathology*; D012175:Retinoblastoma / Q000401:mortality / Q000473:pathology*; D012189:Retrospective Studies