Difference between revisions of "Lhermitte-Duclos disease"

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'''Lhermitte-Duclos_disease''', abbreviated '''LDD''', is a rare [[neuropathology]].
'''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'''.
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==
==General==
*Cerebellar lesion.
*[[Cerebellum|Cerebellar]] lesion.
*May be associated with [[Cowden syndrome]].<ref name=omim158350>{{OMIM|158350}}</ref>
*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==
==Microscopic==
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*Large (polygonal) cells with round nuclei and prominent nucleoli in the inner (granular) layer - '''key feature'''.
*Large (polygonal) cells with round nuclei and prominent nucleoli in the inner (granular) layer - '''key feature'''.
*+/-Microcalcifications.
*+/-Microcalcifications.
==IHC==
*Synapto+ve.
*Calbindin+ve.
*PTEN-ve.
*MIB-1 almost absent.


===Images===
===Images===
<gallery>
<gallery>
File:Dysplastic cerebellar gangliocytoma.jpg | LDD in cerebellar cross section (AFIP)
Image:Dysplastic gangliocytoma lhermitte duclos.jpg | LDD. (WC/Jensflorian)
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>
</gallery>
www:
www:
*[http://path.upmc.edu/cases/case472.html LDD - several images (upmc.edu)].
*[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==
==See also==
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[[Category:Neuropathology tumours]]
[[Category:Neuropathology tumours]]
[[Category:Diagnosis]]
[[Category:Diagnosis]]
[[Category:WHO grade I tumours]]

Latest revision as of 09:54, 13 October 2015

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

It is also known as dysplastic cerebellar gangliocytoma[1] and dysplastic gangliocytoma of the cerebellum.

General

Microscopic

Features:[4]

  • The outer (molecular) layer has increased cellularity.
  • Purkinje cells absent.[1]
  • 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

  • LDD in cerebellar cross section (AFIP)

  • LDD. (WC/Jensflorian)

  • LDD, Luxol fast blue stain. (WC/Sbrandner)

  • LDD, Calbindin. (WC/Sbrandner)

www:

Molecular

  • PTEN inactivation. [5]
    • Mosaic forms reported.[6]


DDx:

(Usually on imaging):

See also

References

  1. ↑ 1.0 1.1 Yağci-Küpeli, B.; Oguz, KK.; Bilen, MA.; Yalçin, B.; Akalan, N.; Büyükpamukçu, M. (Mar 2010). "An unusual cause of posterior fossa mass: Lhermitte-Duclos disease.". J Neurol Sci 290 (1-2): 138-41. doi:10.1016/j.jns.2009.12.010. PMID 20060133.
  2. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158350
  3. ↑ Bozbuga, M.; Gulec, I.; Suslu, HT.; Bayindir, C.. "Bilateral Lhermitte-Duclos disease.". Neurol India 58 (2): 309-11. doi:10.4103/0028-3886.63799. PMID 20508358.
  4. ↑ URL: http://path.upmc.edu/cases/case472.html. Accessed on: 21 January 2012.
  5. ↑ Chen, XY.; Lu, F.; Wang, YM.; Yang, Y.; Wei, GQ.; Wu, D.; Wang, LF.; Wu, YM. (Oct 2014). "PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.". Clin Genet 86 (4): 349-54. doi:10.1111/cge.12282. PMID 24102544.
  6. ↑ Pritchard, CC.; Smith, C.; Marushchak, T.; Koehler, K.; Holmes, H.; Raskind, W.; Walsh, T.; Bennett, RL. (Dec 2013). "A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing.". Genet Med 15 (12): 1004-7. doi:10.1038/gim.2013.51. PMID 23619277.
  7. ↑ Huang, S.; Zhang, G.; Zhang, J. (2015). "Similar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature.". Int J Clin Exp Pathol 8 (6): 7583-7. PMID 26261673.
  8. ↑ Takei, H.; Rouah, E.; Bhattacharjee, MB. (2015). "Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review.". Int J Clin Exp Pathol 8 (6): 7570-4. PMID 26261671.
  9. ↑ Douglas-Akinwande, AC.; Payner, TD.; Hattab, EM. (Jul 2009). "Medulloblastoma mimicking Lhermitte-Duclos disease on MRI and CT.". Clin Neurol Neurosurg 111 (6): 536-9. doi:10.1016/j.clineuro.2009.01.008. PMID 19233547.
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