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NeurOnc10

Topic: Imaging

Created on Sunday, March 3 2013 by gliageek

Last modified on Sunday, March 3 2013.


Courtesy of Dr. Mark Cohen
This tumor was removed from the posterior fossa of a 14 month old boy. Further investigation is indicated to look for which of the following syndromes?

 
        A) Neurofibromatosis 2
 
        B) Li-Fraumeni syndrome
 
        C) Gorlin syndrome
 
        D) Tuberous sclerosis complex
 
        E) Neurofibromatosis 1
 

 


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This question was created on March 03, 2013 by gliageek.
This question was last modified on March 03, 2013.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Neurofibromatosis 2

This answer is incorrect.


Although rare, childhood spinal ependymomas may be the first indication of the presence of NF-2  (See References)

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B) Li-Fraumeni syndrome

This answer is incorrect.


Choroid plexus carcinoma is currently considered an LFS-defining tumor  (See References)

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C) Gorlin syndrome

This answer is correct.


Desmoplastic medulloblastoma is commonly the first malignant manifestation of the nevoid basal cell carcinoma syndrome; some believe that its presence in a child less than 2 years old should be a major criterion for the diagnosis of NBCCS.  (See References)

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D) Tuberous sclerosis complex

This answer is incorrect.


Subependymal giant cell astrocytomas present in approximately 10% of patients with TSC  (See References)

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E) Neurofibromatosis 1

This answer is incorrect.


Optic pathway gliomas occur in about 15% of NF-1 patients, usually before age 7.  (See References)

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References:

1. Amlashi, S.F., Riffaud, L., Brassier, G., and Morandi, X. (2003). "Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature." Cancer, 98(3) 618-24. (PMID:12879481)
2. Lo Muzio, L. (2008). "Nevoid basal cell carcinoma syndrome (Gorlin syndrome)." Orphanet J Rare Dis, 3 32. (PMID:19032739)
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imaging
NeurOnc10
Question ID: 030313163
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 03/03/2013
Modified: 03/03/2013
Estimated Permutations: 120

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