Lhermitte-Duclos disease: Difference between revisions

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~~#redirect~~ [[~~Neuropathology_tumours#Lhermitte-Duclos_disease~~]]

'''Lhermitte-Duclos disease''', abbreviated '''LDD''', is a rare [[neuropathology]].

It is also known as '''dysplastic cerebellar gangliocytoma'''<ref name=pmid20060133>{{Cite journal | last1 = Yağci-Küpeli | first1 = B. | last2 = Oguz | first2 = KK. | last3 = Bilen | first3 = MA. | last4 = Yalçin | first4 = B. | last5 = Akalan | first5 = N. | last6 = Büyükpamukçu | first6 = M. | title = An unusual cause of posterior fossa mass: Lhermitte-Duclos disease. | journal = J Neurol Sci | volume = 290 | issue = 1-2 | pages = 138-41 | month = Mar | year = 2010 | doi = 10.1016/j.jns.2009.12.010 | PMID = 20060133 }}</ref> and '''dysplastic gangliocytoma of the cerebellum'''.

==General==

*[[Cerebellum|Cerebellar]] lesion.

*May be associated with [[Cowden syndrome]].<ref name=omim158350>{{OMIM|158350}}</ref>

*Rarely bilateral.<ref>{{Cite journal | last1 = Bozbuga | first1 = M. | last2 = Gulec | first2 = I. | last3 = Suslu | first3 = HT. | last4 = Bayindir | first4 = C. | title = Bilateral Lhermitte-Duclos disease. | journal = Neurol India | volume = 58 | issue = 2 | pages = 309-11 | month = | year = | doi = 10.4103/0028-3886.63799 | PMID = 20508358 }}</ref>

*ICD-O code: 9493/0

==Microscopic==

Features:<ref>URL: [http://path.upmc.edu/cases/case472.html http://path.upmc.edu/cases/case472.html]. Accessed on: 21 January 2012.</ref>

*The outer (molecular) layer has increased cellularity.

*Purkinje cells absent.<ref name=pmid20060133/>

*Large (polygonal) cells with round nuclei and prominent nucleoli in the inner (granular) layer - '''key feature'''.

*+/-Microcalcifications.

==IHC==

*Synapto+ve.

*Calbindin+ve.

*PTEN-ve.

*MIB-1 almost absent.

===Images===

File:Dysplastic cerebellar gangliocytoma.jpg | LDD in cerebellar cross section (AFIP)

Image:Dysplastic gangliocytoma lhermitte duclos.jpg | LDD. (WC/Jensflorian)

File:Lhermitte Duclos Luxol.jpg | LDD, Luxol fast blue stain. (WC/Sbrandner)

File:Lhermitte Duclos Calbindin.jpg | LDD, Calbindin. (WC/Sbrandner)

</gallery>

www:

*[http://path.upmc.edu/cases/case472.html LDD - several images (upmc.edu)].

==Molecular==

*PTEN inactivation. <ref>{{Cite journal | last1 = Chen | first1 = XY. | last2 = Lu | first2 = F. | last3 = Wang | first3 = YM. | last4 = Yang | first4 = Y. | last5 = Wei | first5 = GQ. | last6 = Wu | first6 = D. | last7 = Wang | first7 = LF. | last8 = Wu | first8 = YM. | title = PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes. | journal = Clin Genet | volume = 86 | issue = 4 | pages = 349-54 | month = Oct | year = 2014 | doi = 10.1111/cge.12282 | PMID = 24102544 }}</ref>

**Mosaic forms reported.<ref>{{Cite journal | last1 = Pritchard | first1 = CC. | last2 = Smith | first2 = C. | last3 = Marushchak | first3 = T. | last4 = Koehler | first4 = K. | last5 = Holmes | first5 = H. | last6 = Raskind | first6 = W. | last7 = Walsh | first7 = T. | last8 = Bennett | first8 = RL. | title = A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing. | journal = Genet Med | volume = 15 | issue = 12 | pages = 1004-7 | month = Dec | year = 2013 | doi = 10.1038/gim.2013.51 | PMID = 23619277 }}</ref>

==DDx:==

(Usually on imaging):

*Arachnoid vascular malformation <ref>{{Cite journal | last1 = Huang | first1 = S. | last2 = Zhang | first2 = G. | last3 = Zhang | first3 = J. | title = Similar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature. | journal = Int J Clin Exp Pathol | volume = 8 | issue = 6 | pages = 7583-7 | month = | year = 2015 | doi = | PMID = 26261673 }}</ref>

*Cerebellar [[Pleomorphic xanthoastrocytoma]]<ref>{{Cite journal | last1 = Takei | first1 = H. | last2 = Rouah | first2 = E. | last3 = Bhattacharjee | first3 = MB. | title = Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review. | journal = Int J Clin Exp Pathol | volume = 8 | issue = 6 | pages = 7570-4 | month = | year = 2015 | doi = | PMID = 26261671 }}</ref>

*[[Medulloblastoma]]<ref>{{Cite journal | last1 = Douglas-Akinwande | first1 = AC. | last2 = Payner | first2 = TD. | last3 = Hattab | first3 = EM. | title = Medulloblastoma mimicking Lhermitte-Duclos disease on MRI and CT. | journal = Clin Neurol Neurosurg | volume = 111 | issue = 6 | pages = 536-9 | month = Jul | year = 2009 | doi = 10.1016/j.clineuro.2009.01.008 | PMID = 19233547 }}</ref>

==See also==

*[[Neuropathology tumours]].

==References==

[[Category:Neuropathology tumours]]

[[Category:Diagnosis]]

[[Category:WHO grade I tumours]]

@@ Line 1: / Line 1: @@
-#redirect [[Neuropathology_tumours#Lhermitte-Duclos_disease]]
+'''Lhermitte-Duclos disease''', abbreviated '''LDD''', is a rare [[neuropathology]].
+It is also known as '''dysplastic cerebellar gangliocytoma'''<ref name=pmid20060133>{{Cite journal  | last1 = Yağci-Küpeli | first1 = B. | last2 = Oguz | first2 = KK. | last3 = Bilen | first3 = MA. | last4 = Yalçin | first4 = B. | last5 = Akalan | first5 = N. | last6 = Büyükpamukçu | first6 = M. | title = An unusual cause of posterior fossa mass: Lhermitte-Duclos disease. | journal = J Neurol Sci | volume = 290 | issue = 1-2 | pages = 138-41 | month = Mar | year = 2010 | doi = 10.1016/j.jns.2009.12.010 | PMID = 20060133 }}</ref> and '''dysplastic gangliocytoma of the cerebellum'''.
+==General==
+*[[Cerebellum|Cerebellar]] lesion.
+*May be associated with [[Cowden syndrome]].<ref name=omim158350>{{OMIM|158350}}</ref>
+*Rarely bilateral.<ref>{{Cite journal  | last1 = Bozbuga | first1 = M. | last2 = Gulec | first2 = I. | last3 = Suslu | first3 = HT. | last4 = Bayindir | first4 = C. | title = Bilateral Lhermitte-Duclos disease. | journal = Neurol India | volume = 58 | issue = 2 | pages = 309-11 | month =  | year =  | doi = 10.4103/0028-3886.63799 | PMID = 20508358 }}</ref>
+*ICD-O code: 9493/0
+==Microscopic==
+Features:<ref>URL: [http://path.upmc.edu/cases/case472.html http://path.upmc.edu/cases/case472.html]. Accessed on: 21 January 2012.</ref>
+*The outer (molecular) layer has increased cellularity.
+*Purkinje cells absent.<ref name=pmid20060133/>
+*Large (polygonal) cells with round nuclei and prominent nucleoli in the inner (granular) layer - '''key feature'''.
+*+/-Microcalcifications.
+==IHC==
+*Synapto+ve.
+*Calbindin+ve.
+*PTEN-ve.
+*MIB-1 almost absent.
+===Images===
+<gallery>
+File:Dysplastic cerebellar gangliocytoma.jpg | LDD in cerebellar cross section (AFIP)
+Image:Dysplastic gangliocytoma lhermitte duclos.jpg | LDD. (WC/Jensflorian)
+File:Lhermitte Duclos Luxol.jpg | LDD, Luxol fast blue stain. (WC/Sbrandner)
+File:Lhermitte Duclos Calbindin.jpg | LDD, Calbindin. (WC/Sbrandner)
+</gallery>
+www:
+*[http://path.upmc.edu/cases/case472.html LDD - several images (upmc.edu)].
+==Molecular==
+*PTEN inactivation. <ref>{{Cite journal  | last1 = Chen | first1 = XY. | last2 = Lu | first2 = F. | last3 = Wang | first3 = YM. | last4 = Yang | first4 = Y. | last5 = Wei | first5 = GQ. | last6 = Wu | first6 = D. | last7 = Wang | first7 = LF. | last8 = Wu | first8 = YM. | title = PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes. | journal = Clin Genet | volume = 86 | issue = 4 | pages = 349-54 | month = Oct | year = 2014 | doi = 10.1111/cge.12282 | PMID = 24102544 }}</ref>
+**Mosaic forms reported.<ref>{{Cite journal  | last1 = Pritchard | first1 = CC. | last2 = Smith | first2 = C. | last3 = Marushchak | first3 = T. | last4 = Koehler | first4 = K. | last5 = Holmes | first5 = H. | last6 = Raskind | first6 = W. | last7 = Walsh | first7 = T. | last8 = Bennett | first8 = RL. | title = A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing. | journal = Genet Med | volume = 15 | issue = 12 | pages = 1004-7 | month = Dec | year = 2013 | doi = 10.1038/gim.2013.51 | PMID = 23619277 }}</ref>
+==DDx:==
+(Usually on imaging):
+*Arachnoid vascular malformation <ref>{{Cite journal  | last1 = Huang | first1 = S. | last2 = Zhang | first2 = G. | last3 = Zhang | first3 = J. | title = Similar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature. | journal = Int J Clin Exp Pathol | volume = 8 | issue = 6 | pages = 7583-7 | month =  | year = 2015 | doi =  | PMID = 26261673 }}</ref>
+*Cerebellar [[Pleomorphic xanthoastrocytoma]]<ref>{{Cite journal  | last1 = Takei | first1 = H. | last2 = Rouah | first2 = E. | last3 = Bhattacharjee | first3 = MB. | title = Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review. | journal = Int J Clin Exp Pathol | volume = 8 | issue = 6 | pages = 7570-4 | month =  | year = 2015 | doi =  | PMID = 26261671 }}</ref>
+*[[Medulloblastoma]]<ref>{{Cite journal  | last1 = Douglas-Akinwande | first1 = AC. | last2 = Payner | first2 = TD. | last3 = Hattab | first3 = EM. | title = Medulloblastoma mimicking Lhermitte-Duclos disease on MRI and CT. | journal = Clin Neurol Neurosurg | volume = 111 | issue = 6 | pages = 536-9 | month = Jul | year = 2009 | doi = 10.1016/j.clineuro.2009.01.008 | PMID = 19233547 }}</ref>
+==See also==
+*[[Neuropathology tumours]].
+==References==
+{{Reflist|2}}
+[[Category:Neuropathology tumours]]
 [[Category:Diagnosis]]
+[[Category:WHO grade I tumours]]

Lhermitte-Duclos disease: Difference between revisions

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