Brain Abnormalities on MR Imaging in Patients with Retinoblastoma

Overview

Journal AJNR Am J Neuroradiol

Specialty Neurology

Date 2010 Apr 24

PMID 20413604

Citations 10

Authors

F Rodjan

P de Graaf

A C Moll

S M Imhof

J I M L Verbeke

E Sanchez

J A Castelijns

Affiliations

Soon will be listed here.

Abstract

Background And Purpose: Although pineoblastoma is the main brain abnormality associated with hereditary retinoblastoma, recent studies suggest an association with pineal cysts. This association is important because some pineoblastomas mimic pineal cysts. If there is a relationship, then radiologists should be aware of it because diagnostic confusion is possible. Mental retardation and congenital brain anomalies are also reported in patients with retinoblastoma, mostly in combination with 13q deletion syndrome. In this retrospective study, the presence of brain abnormalities on MR images in a large group of consecutive patients with retinoblastoma is evaluated.

Materials And Methods: Brain MR images of 168 patients with retinoblastoma from 1989 to 2009 were evaluated by 2 radiologists for tumors, structural anomalies, myelinization, and coincidental findings. Clinical records were reviewed for laterality, heredity, and the presence of the 13q deletion syndrome.

Results: The hereditary group (patients with bilateral and unilateral proved RB1-germline mutation) included 90 (54%) of 168 patients. Seven patients had 13q deletion syndrome. Normal findings on brain MR images were seen in 150 (89%) patients. Five pineoblastomas were detected, all in patients with hereditary retinoblastoma (5.5% in the hereditary subgroup). Nine pineal cysts were detected (2.2% in the hereditary subgroup). Corpus callosum agenesis was found in 1 patient and a Dandy-Walker variant in 1 patient, both in combination with 13q deletion syndrome.

Conclusions: Pineoblastoma is associated with hereditary retinoblastoma, and structural brain abnormalities are restricted to patients with the 13q deletion syndrome. The incidence of pineal cysts in patients with retinoblastomas is similar to that in healthy children and is not associated with hereditary retinoblastoma.

Citing Articles

Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report.

Luo T, Wang Y, Wang D, Zhan S, Deng S Medicine (Baltimore). 2022; 101(36):e30492.

PMID: 36086683 PMC: 10980463. DOI: 10.1097/MD.0000000000030492.

Germline and somatic mutations in the pathology of pineal cyst: A whole-exome sequencing study of 93 individuals.

Yan Y, Martinez R, Rasheed M, Cahal J, Xu Z, Rui Y Mol Genet Genomic Med. 2021; 9(6):e1691.

PMID: 33943042 PMC: 8222845. DOI: 10.1002/mgg3.1691.

Magnetic resonance imaging of pineal tumors and drop metastases: a review approach.

Solomou A Rare Tumors. 2017; 9(3):6715.

PMID: 29142658 PMC: 5661140. DOI: 10.4081/rt.2017.6715.

Modeling Developmental and Tumorigenic Aspects of Trilateral Retinoblastoma via Human Embryonic Stem Cells.

Avior Y, Lezmi E, Yanuka D, Benvenisty N Stem Cell Reports. 2017; 8(5):1354-1365.

PMID: 28392220 PMC: 5425613. DOI: 10.1016/j.stemcr.2017.03.005.

Retinoblastoma protein controls growth, survival and neuronal migration in human cerebral organoids.

Matsui T, Nieto-Estevez V, Kyrychenko S, Schneider J, Hsieh J Development. 2017; 144(6):1025-1034.

PMID: 28087635 PMC: 5358115. DOI: 10.1242/dev.143636.

References

Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F . Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999; 55(6):478-82. DOI: 10.1034/j.1399-0004.1999.550614.x. View

Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D . A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986; 323(6089):643-6. DOI: 10.1038/323643a0. View

Sener R . The pineal gland: a comparative MR imaging study in children and adults with respect to normal anatomical variations and pineal cysts. Pediatr Radiol. 1995; 25(4):245-8. DOI: 10.1007/BF02011087. View

Karatza E, Shields C, Flanders A, Gonzalez M, Shields J . Pineal cyst simulating pinealoblastoma in 11 children with retinoblastoma. Arch Ophthalmol. 2006; 124(4):595-7. DOI: 10.1001/archopht.124.4.595. View

Beck Popovic M, Balmer A, Maeder P, Braganca T, Munier F . Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma?. Pediatr Blood Cancer. 2005; 46(7):755-61. DOI: 10.1002/pbc.20464. View

Melis D, Sperandeo M, Perone L, Staiano A, Andria G, Sebastio G . Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins. Clin Dysmorphol. 2005; 15(1):13-18. DOI: 10.1097/01.mcd.0000181602.70629.67. View

Al-Holou W, Garton H, Muraszko K, Ibrahim M, Maher C . Prevalence of pineal cysts in children and young adults. Clinical article. J Neurosurg Pediatr. 2009; 4(3):230-6. DOI: 10.3171/2009.4.PEDS0951. View

Skulski M, Egelhoff J, Kollias S, Mazewski C, Ball Jr W . Trilateral retinoblastoma with suprasellar involvement. Neuroradiology. 1997; 39(1):41-3. DOI: 10.1007/s002340050364. View

Chung J, Choi J, Park M, Choi S . A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition. Yonsei Med J. 2001; 42(5):558-62. DOI: 10.3349/ymj.2001.42.5.558. View

10.

Sugiyama K, Arita K, Okamura T, Yamasaki F, Kajiwara Y, Ueda H . Detection of a pineoblastoma with large central cyst in a young child. Childs Nerv Syst. 2002; 18(3-4):157-60. DOI: 10.1007/s00381-002-0569-0. View

11.

Kennerknecht I, Barbi G, Greher J . Diagnosis of retinoblastoma in a presymptomatic stage after detection of interstitial chromosomal deletion 13q. Ophthalmic Genet. 1994; 15(1):19-24. DOI: 10.3109/13816819409056906. View

12.

Koestenberger M, Kroisel P, Lackner H, Urban C . Simultaneous occurrence of retinoblastoma and neurofibromatosis I in a young child. Med Pediatr Oncol. 2002; 40(2):124-5. DOI: 10.1002/mpo.10082. View

13.

Skrypnyk C, Bartsch O . Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14. Am J Med Genet A. 2004; 124A(4):397-401. DOI: 10.1002/ajmg.a.20410. View

14.

Kasyan A, Benirschke K . Genetic haploinsufficiency as a phenotypic determinant of a deletion 13q syndrome. Pediatr Dev Pathol. 2005; 8(6):658-65. DOI: 10.1007/s10024-005-0066-z. View

15.

Araujo Junior E, Guimaraes Filho H, Pires C, Zanforlin Filho S . Prenatal diagnosis of the 13q-syndrome through three-dimensional ultrasonography: a case report. Arch Gynecol Obstet. 2006; 274(4):243-5. DOI: 10.1007/s00404-006-0128-0. View

16.

Sawamura Y, Ikeda J, Ozawa M, Minoshima Y, Saito H, Abe H . Magnetic resonance images reveal a high incidence of asymptomatic pineal cysts in young women. Neurosurgery. 1995; 37(1):11-5; discussion 15-6. DOI: 10.1227/00006123-199507000-00002. View

17.

Duncan J, Scott I, Murray T, Gombos D, van Quill K, OBrien J . Routine neuroimaging in retinoblastoma for the detection of intracranial tumors. Arch Ophthalmol. 2001; 119(3):450-2. View

18.

Ibarra M, OBrien J . Is screening for primitive neuroectodermal tumors in patients with unilateral retinoblastoma necessary?. J AAPOS. 2000; 4(1):54-6. DOI: 10.1016/s1091-8531(00)90012-0. View

19.

Desai V, Shields C, Shields J, Donoso L, Wagner R . Retinoblastoma associated with holoprosencephaly. Am J Ophthalmol. 1990; 109(3):355-6. DOI: 10.1016/s0002-9394(14)74571-4. View

20.

Beck Popovic M, Diezi M, Kuchler H, Abouzeid H, Maeder P, Balmer A . Trilateral retinoblastoma with suprasellar tumor and associated pineal cyst. J Pediatr Hematol Oncol. 2007; 29(1):53-6. DOI: 10.1097/MPH.0b013e3180308782. View