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Neurocutaneous 05

Topic: Pathology

Created on Monday, February 16 2009 by gliageek

Last modified on Monday, February 16 2009.


Courtesy of Dr. Mark Cohen
This 4 year old boy, noted to have multiple skin lesions, may have a germline mutation in which of the following genes?

 
        A) PTEN
 
        B) PTCH
 
        C) TSC2
 
        D) APC
 
        E) TP53
 

 


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This question was created on February 16, 2009 by gliageek.
This question was last modified on February 16, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) PTEN

This answer is incorrect.


Multiple tricholemmomas are seen in Cowden disease, but the cerebellar lesion in dysplastic gangliocytoma  (See References)

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B) PTCH

This answer is correct.


Desmoplastic medulloblastoma in a child under age 5 should raise the possibility of Gorlin syndrome  (See References)

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C) TSC2

This answer is incorrect.


TS does not include PNETs  (See References)

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D) APC

This answer is incorrect.


Turcot syndrome includes MB, but not skin lesions  (See References)

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E) TP53

This answer is incorrect.


Li-Fraumeni generally does not include skin lesions  (See References)

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References:

1. Love, S., Louis, D.N., and Ellison, D.W. (2008). Greenfield's Neuropathology, 8th Edition. Oxford University Press, USA (ISBN:0340906820)Advertising:
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pathology
Neurocutaneous 05
Question ID: 021609115
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/16/2009
Modified: 02/16/2009
Estimated Permutations: 120

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