Evaluation of MRI of the Pineal Gland in Retinoblastoma

NCT06367569 | Completed

• 1 other identifier: 2012//375
• Study Type: observational
• Target: 607
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Retinoblastoma

Outcome Measures

Primary Outcomes (1)

• Diagnostic accuracy of the screening

  The sensitivity and specificity of the baseline screening and extended follow-up will be determined

  01-10-2012

Secondary Outcomes (1)

• Survival analysis of trilateral retinoblastoma patients

  01-10-2012

Interventions

Screening for trilateral retinoblastoma with MRI DIAGNOSTIC_TEST

The diagnostic accuracy of the screening program, baseline screening with MRI followed by follow-up of suspicious pineal glands in heritable retinoblastoma patients.

Eligibility Criteria

• Age: 0 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

3.1 Study population Within ERIC about 150 new retinoblastoma patients are diagnosed every year. About 10 percent of all new retinoblastoma patients will be diagnosed at the VUmc.

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• Amsterdam UMC, location VUmc: lead

Study Sites (1)

VU University Medical Center

Amsterdam, North Holland, 1081 HV, Netherlands

Location

Related Publications (11)

• Jakobiec FA, Tso MO, Zimmerman LE, Danis P. Retinoblastoma and intracranial malignancy. Cancer. 1977 May;39(5):2048-58. doi: 10.1002/1097-0142(197705)39:53.0.co;2-9.

  PMID: 870165 BACKGROUND

• Kivela T. Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. J Clin Oncol. 1999 Jun;17(6):1829-37. doi: 10.1200/JCO.1999.17.6.1829.

  PMID: 10561222 BACKGROUND

• Rodjan F, de Graaf P, Moll AC, Imhof SM, Verbeke JI, Sanchez E, Castelijns JA. Brain abnormalities on MR imaging in patients with retinoblastoma. AJNR Am J Neuroradiol. 2010 Sep;31(8):1385-9. doi: 10.3174/ajnr.A2102. Epub 2010 Apr 22.

  PMID: 20413604 BACKGROUND

• De Potter P, Shields CL, Shields JA. Clinical variations of trilateral retinoblastoma: a report of 13 cases. J Pediatr Ophthalmol Strabismus. 1994 Jan-Feb;31(1):26-31. doi: 10.3928/0191-3913-19940101-06.

  PMID: 8195959 BACKGROUND

• Beck Popovic M, Balmer A, Maeder P, Braganca T, Munier FL. Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma? Pediatr Blood Cancer. 2006 Jun;46(7):755-61. doi: 10.1002/pbc.20464.

  PMID: 16003734 BACKGROUND

• Rodjan F, de Graaf P, Brisse HJ, Goricke S, Maeder P, Galluzzi P, Aerts I, Alapetite C, Desjardins L, Wieland R, Popovic MB, Diezi M, Munier FL, Hadjistilianou T, Knol DL, Moll AC, Castelijns JA. Trilateral retinoblastoma: neuroimaging characteristics and value of routine brain screening on admission. J Neurooncol. 2012 Sep;109(3):535-44. doi: 10.1007/s11060-012-0922-4. Epub 2012 Jul 18.

  PMID: 22802019 BACKGROUND

• Al-Holou WN, Garton HJ, Muraszko KM, Ibrahim M, Maher CO. Prevalence of pineal cysts in children and young adults. Clinical article. J Neurosurg Pediatr. 2009 Sep;4(3):230-6. doi: 10.3171/2009.4.PEDS0951.

  PMID: 19772406 BACKGROUND

• Bossuyt PM, Reitsma JB, Bruns DE, Gatsonis CA, Glasziou PP, Irwig LM, Moher D, Rennie D, de Vet HC, Lijmer JG; Standards for Reporting of Diagnostic Accuracy. The STARD statement for reporting studies of diagnostic accuracy: explanation and elaboration. Clin Chem. 2003 Jan;49(1):7-18. doi: 10.1373/49.1.7.

  PMID: 12507954 BACKGROUND

• de Graaf P, Goricke S, Rodjan F, Galluzzi P, Maeder P, Castelijns JA, Brisse HJ; European Retinoblastoma Imaging Collaboration (ERIC). Guidelines for imaging retinoblastoma: imaging principles and MRI standardization. Pediatr Radiol. 2012 Jan;42(1):2-14. doi: 10.1007/s00247-011-2201-5. Epub 2011 Aug 18.

  PMID: 21850471 BACKGROUND

• Lacroix-Boudhrioua V, Linglart A, Ancel PY, Falip C, Bougneres PF, Adamsbaum C. Pineal cysts in children. Insights Imaging. 2011 Dec;2(6):671-678. doi: 10.1007/s13244-011-0117-0. Epub 2011 Aug 10.

  PMID: 22347985 BACKGROUND

• Pastel DA, Mamourian AC, Duhaime AC. Internal structure in pineal cysts on high-resolution magnetic resonance imaging: not a sign of malignancy. J Neurosurg Pediatr. 2009 Jul;4(1):81-4. doi: 10.3171/2008.5.17681.

  PMID: 19569915 BACKGROUND

MeSH Terms

Conditions

Retinoblastoma

Interventions

Mass Screening; Magnetic Resonance Imaging

Condition Hierarchy (Ancestors)

Neoplasms, Neuroepithelial; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Glandular and Epithelial; Neoplasms, Nerve Tissue; Retinal Neoplasms; Eye Neoplasms; Neoplasms by Site; Eye Diseases, Hereditary; Eye Diseases; Retinal Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis; Health Surveys; Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Diagnostic Services; Preventive Health Services; Health Services; Health Care Facilities Workforce and Services; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Public Health Practice; Tomography; Diagnostic Imaging

Study Officials

• Pim de Graaf, MD PhD

  Amsterdam UMC

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal investigator

Study Record Dates

• First Submitted: April 4, 2024
• First Posted: April 16, 2024
• Study Start: October 1, 2012
• Primary Completion: September 1, 2023
• Study Completion: September 1, 2023
• Last Updated: April 16, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

NL (1)