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<meta name="DC.Title" content="Brain Abnormalities on MR Imaging in Patients with Retinoblastoma" />
<meta name="DC.Identifier" content="10.3174/ajnr.A2102" />
<meta name="DC.Date" content="2010-09-01" />
<meta name="DC.Publisher" content="American Journal of Neuroradiology" />
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Indicates open access to non-subscribers at www.ajnr.org" />
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<meta name="DC.Description" content="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.

CCA
:   corpus callosum agenesis
DV
:   dilated ventricles
MRI
:   MR imaging
Pre-t. MRI
:   pretreatment MRI
RB
:   retinoblastoma" />
<meta name="DC.Contributor" content="F. Rodjan" />
<meta name="DC.Contributor" content="P. de Graaf" />
<meta name="DC.Contributor" content="A.C. Moll" />
<meta name="DC.Contributor" content="S.M. Imhof" />
<meta name="DC.Contributor" content="J.I.M.L Verbeke" />
<meta name="DC.Contributor" content="E. Sanchez" />
<meta name="DC.Contributor" content="J.A. Castelijns" />
<meta name="article:published_time" content="2010-09-01" />
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<meta name="citation_title" content="Brain Abnormalities on MR Imaging in Patients with Retinoblastoma" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;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.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;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.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;The hereditary group (patients with bilateral and unilateral proved &lt;i&gt;RB1&lt;/i&gt;-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.&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;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.&lt;/p&gt;" />
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<meta name="twitter:title" content="Brain Abnormalities on MR Imaging in Patients with Retinoblastoma" />
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<meta name="twitter:image" content="http://ajnr-stage2.stage.highwire.org/sites/default/files/highwire/ajnr/31/8.cover.gif" />
<meta name="twitter:description" content="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.

CCA
:   corpus callosum agenesis
DV
:   dilated ventricles
MRI
:   MR imaging
Pre-t. MRI
:   pretreatment MRI
RB
:   retinoblastoma" />
<meta name="og-title" property="og:title" content="Brain Abnormalities on MR Imaging in Patients with Retinoblastoma" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/31/8/1385" />
<meta name="og-site-name" property="og:site_name" content="American Journal of Neuroradiology" />
<meta name="og-description" property="og:description" content="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.

CCA
:   corpus callosum agenesis
DV
:   dilated ventricles
MRI
:   MR imaging
Pre-t. MRI
:   pretreatment MRI
RB
:   retinoblastoma" />
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      <h1 class="highwire-cite-title" id="page-title">Brain Abnormalities on MR Imaging in Patients with Retinoblastoma</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">F. Rodjan</span>, <span class="highwire-citation-author" data-delta="1">P. de Graaf</span>, <span class="highwire-citation-author" data-delta="2">A.C. Moll</span>, <span class="highwire-citation-author" data-delta="3">S.M. Imhof</span>, <span class="highwire-citation-author" data-delta="4">J.I.M.L Verbeke</span>, <span class="highwire-citation-author" data-delta="5">E. Sanchez</span> and <span class="highwire-citation-author" data-delta="6">J.A. Castelijns</span></span></div>
  
    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">September 2010,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">31 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(8) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1385-1389; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A2102 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-9798--6409757774" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">F. 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<p id="p-3"><strong>BACKGROUND AND PURPOSE:</strong> 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.</p>
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<p id="p-4"><strong>MATERIALS AND METHODS:</strong> 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.</p>
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<p id="p-5"><strong>RESULTS:</strong> The hereditary group (patients with bilateral and unilateral proved <em>RB1</em>-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.</p>
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<p id="p-6"><strong>CONCLUSIONS:</strong> 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.</p>
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</div><div class="section glossary" id="glossary-1"><h2>Abbreviations</h2><dl id="def-list-1"><dt id="def-item-1">CCA<span class="def-item-dt-sep"></span></dt><dd>corpus callosum agenesis<span class="def-item-dd-sep"></span></dd><dt id="def-item-2">DV<span class="def-item-dt-sep"></span></dt><dd>dilated ventricles<span class="def-item-dd-sep"></span></dd><dt id="def-item-3">MRI<span class="def-item-dt-sep"></span></dt><dd>MR imaging<span class="def-item-dd-sep"></span></dd><dt id="def-item-4">Pre-t. MRI<span class="def-item-dt-sep"></span></dt><dd>pretreatment MRI<span class="def-item-dd-sep"></span></dd><dt id="def-item-5">RB<span class="def-item-dt-sep"></span></dt><dd>retinoblastoma</dd></dl></div><ul class="copyright-statement"><li class="fn" id="copyright-statement-1">Copyright © American Society of Neuroradiology</li></ul><div class="license" id="license-1"><p id="p-2">Indicates open access to non-subscribers at <a href="http://www.ajnr.org">www.ajnr.org</a></p></div><span class="highwire-journal-article-marker-end"></span></div><span class="related-urls"></span></div><a href="http://ajnr-stage2.stage.highwire.org/content/31/8/1385.full" class="hw-link hw-link-article-full-text" data-icon-position="" data-hide-link-title="0">View Full Text</a></div>  </div>

  
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