Evaluation of MRI of the Pineal Gland in Retinoblastoma

Rationale: Currently baseline brain MRI (magnetic resonance imaging) with extended follow-up of pineal cysts is systematically performed in all new retinoblastoma (Rb) patients, because children with hereditary retinoblastoma have an increased risk of primitive neuroectodermal tumors (PNET) that are histopathologically identical to the retinal tumors (1). The prevalence of developing a PNET in combination with unilateral or bilateral hereditary Rb is 5-15% (2). Treatment is difficult and the prognosis is poor as only few survivors are reported. Only patients with small asymptomatic PNETs (\<15 mm) are potentially curable. Objective: The main objective of this prospective multicenter study is to evaluate the current strategy of baseline MRI screening of the brain in newly diagnosed retinoblastoma patients, with extended follow-up of selected patients with simple and complicated pineal cysts. Study design: The investigators propose a prospective cohort study (part of a larger multicenter study) to investigate the diagnostic accuracy and survival of baseline MRI screening of the pineal gland in new patients with retinoblastoma, with extended follow-up of selected patients with pineal cysts for early detection of pineoblastoma. Study population: Within the European Retinoblastoma Imaging Collaboration (ERIC) about 150 new retinoblastoma patients are diagnosed every year. About 10 percent of all new retinoblastoma patients will be diagnosed at the VUmc. According to our sample size calculations the investigators will need 334 Rb patients. Main study parameters/endpoints: The primary endpoint of the study is pineoblastoma or supra- / parasellar PNET on MRI (index test). Because a gold standard will not be available, tumor cells in cerebrospinal fluid, histopathological confirmation, clinical disease progression during follow-up, and/or follow-up MRI diagnostics will be used as a composite reference standard in case of a positive index test and clinical diagnosis of pineoblastoma or supra- / parasellar PNET within one year of the last MRI will be used as a composite reference standard in case of a negative index test.

Sex

All

Minimum age

0 Years

Maximum age

18 Years

3.2 Inclusion criteria

* All new hereditary and non-hereditary retinoblastoma patients undergoing a baseline MRI diagnosed at one of the ERIC centers.
* Availability of MR sequences (see section 3.7.1) required by the study

We include both hereditary and non-hereditary Rb patients, because it is possible that initially not all patients are classified correctly and because over the course of years, with improving DNA-analysis, more (unilateral) hereditary Rb patients might be detectable (14).

3.3 Exclusion criteria

A patient will be excluded from the study if:

* baseline MRI has not been performed;
* MR protocol or quality not adjusted to the required protocol
* Follow-up not possible or available

When a pineal cyst on baseline MRI is diagnosed, but for some reason no follow-up MRI has been performed, these patients will be specifically followed up to assess its risk of bias and effect on patient survival.

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