Ependymoma: Difference between revisions

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→Microscopic: Spinal ependymoma
 
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There are currently eight main ependymal tumors:<ref name=Ref_WHOCNS_74>{{Ref WHOCNS|74}}</ref>
There are currently ten main ependymal tumors:<ref name=Ref_WHOCNS_74>{{Ref WHOCNS|74}}</ref>
#Supratentorial [[Subependymoma]]
#Supratentorial ependymoma, ZFTA-fusion positive  
#Supratentorial ependymoma, ZFTA-fusion positive  
#Supratentorial ependymoma, YAP1-fusion positive  
#Supratentorial ependymoma, YAP1-fusion positive  
#Posterior fossa [[Subependymoma]]
#Posterior fossa ependymoma group A
#Posterior fossa ependymoma group A
#Posterior fossa ependymoma group B
#Posterior fossa ependymoma group B
#Spinal [[Subependymoma]]
#Spinal ependymoma
#Spinal ependymoma
#Spinal ependymoma, MYCN-amplified
#Spinal ependymoma, MYCN-amplified
#[[Myxopapillary ependymoma]]
#[[Myxopapillary ependymoma]]
#[[Subependymoma]]


Ependymoma, NOS (not otherwise specified): Molecular analysis still missing.
Ependymoma, NOS (not otherwise specified): Molecular analysis still missing.
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**Cellular ependymoma.
**Cellular ependymoma.
**Ependymoma, RELA fusion-positive.<ref>{{Cite journal  | last1 = Parker | first1 = M. | last2 = Mohankumar | first2 = KM. | last3 = Punchihewa | first3 = C. | last4 = Weinlich | first4 = R. | last5 = Dalton | first5 = JD. | last6 = Li | first6 = Y. | last7 = Lee | first7 = R. | last8 = Tatevossian | first8 = RG. | last9 = Phoenix | first9 = TN. | title = C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. | journal = Nature | volume = 506 | issue = 7489 | pages = 451-5 | month = Feb | year = 2014 | doi = 10.1038/nature13109 | PMID = 24553141 }}</ref><ref>{{Cite journal  | last1 = Pietsch | first1 = T. | last2 = Wohlers | first2 = I. | last3 = Goschzik | first3 = T. | last4 = Dreschmann | first4 = V. | last5 = Denkhaus | first5 = D. | last6 = Dörner | first6 = E. | last7 = Rahmann | first7 = S. | last8 = Klein-Hitpass | first8 = L. | title = Supratentorial ependymomas of childhood carry C11orf95-RELA fusions leading to pathological activation of the NF-κB signaling pathway. | journal = Acta Neuropathol | volume = 127 | issue = 4 | pages = 609-11 | month = Apr | year = 2014 | doi = 10.1007/s00401-014-1264-4 | PMID = 24562983 }}</ref> This is now called Supratentorial ependymoma, ZFTA-fusion positive.
**Ependymoma, RELA fusion-positive.<ref>{{Cite journal  | last1 = Parker | first1 = M. | last2 = Mohankumar | first2 = KM. | last3 = Punchihewa | first3 = C. | last4 = Weinlich | first4 = R. | last5 = Dalton | first5 = JD. | last6 = Li | first6 = Y. | last7 = Lee | first7 = R. | last8 = Tatevossian | first8 = RG. | last9 = Phoenix | first9 = TN. | title = C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. | journal = Nature | volume = 506 | issue = 7489 | pages = 451-5 | month = Feb | year = 2014 | doi = 10.1038/nature13109 | PMID = 24553141 }}</ref><ref>{{Cite journal  | last1 = Pietsch | first1 = T. | last2 = Wohlers | first2 = I. | last3 = Goschzik | first3 = T. | last4 = Dreschmann | first4 = V. | last5 = Denkhaus | first5 = D. | last6 = Dörner | first6 = E. | last7 = Rahmann | first7 = S. | last8 = Klein-Hitpass | first8 = L. | title = Supratentorial ependymomas of childhood carry C11orf95-RELA fusions leading to pathological activation of the NF-κB signaling pathway. | journal = Acta Neuropathol | volume = 127 | issue = 4 | pages = 609-11 | month = Apr | year = 2014 | doi = 10.1007/s00401-014-1264-4 | PMID = 24562983 }}</ref> This is now called Supratentorial ependymoma, ZFTA-fusion positive.
**Anaplastic ependymoma.
**Anaplastic ependymoma. This is now called CNS grade 3 ependymoma.


==Gross==
==Gross==
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*Rare cases with cartilagineous metaplasia.<ref>{{Cite journal  | last1 = Wang | first1 = X. | last2 = Zhang | first2 = S. | last3 = Ye | first3 = Y. | last4 = Chen | first4 = Y. | last5 = Liu | first5 = X. | title = Ependymoma with cartilaginous metaplasia might have more aggressive behavior: a case report and literature review. | journal = Brain Tumor Pathol | volume = 29 | issue = 3 | pages = 172-6 | month = Jul | year = 2012 | doi = 10.1007/s10014-011-0079-4 | PMID = 22228122 }}</ref>  
*Rare cases with cartilagineous metaplasia.<ref>{{Cite journal  | last1 = Wang | first1 = X. | last2 = Zhang | first2 = S. | last3 = Ye | first3 = Y. | last4 = Chen | first4 = Y. | last5 = Liu | first5 = X. | title = Ependymoma with cartilaginous metaplasia might have more aggressive behavior: a case report and literature review. | journal = Brain Tumor Pathol | volume = 29 | issue = 3 | pages = 172-6 | month = Jul | year = 2012 | doi = 10.1007/s10014-011-0079-4 | PMID = 22228122 }}</ref>  
*Branching capillaries usu. only in supratentorial ependymomas.
*Branching capillaries usu. only in supratentorial ependymomas.
===Supratentorial ependymoma===
*Usu. connected to the ventricles.
*Mostly frontal or temporal lobe.
*Approx. 1/3 of all ependymal tumours (41% in children).
*Irregular CM enhancement.
*YAP1-fused tumors in children oft large at time of diagnosis.
*Cysts and/or calcification possible.
*Sharply demarcated from adjacent brain parenchyma.
*True ependymal rosettes are rare.
*Occasionally branching capillary vessels.
*Clear cell phenotypes more common than in other locations.
*Complete surgical resection is the best predictor.
*CSF spread in up to 15% of tumours.
===Posterior fossa ependymoma===
*Usu. 4th ventricle, less common in CPA.
*Most frequent in children.
*May contain tumour nodules with increased cell density.
*Micocysts, vascular hyalinization and calcification can be present.
*No morphologic differences between Group A and B tumours.
*Perivascular pseudorosettes almost always present.
*Rare papillary or tanicytic patterns.


DDx (supratentorial and posterior fossa ependymoma):
DDx (supratentorial and posterior fossa ependymoma):
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**Invasive border = GBM; circumscribed border of lesion = ependymoma.
**Invasive border = GBM; circumscribed border of lesion = ependymoma.
*[[Oligodendroglioma]] (Clear cell ependymoma))
*[[Oligodendroglioma]] (Clear cell ependymoma))
*CNS embryonal tumour with BCOR internal tandem duplication.
===Spinal ependymoma===
*Isomorphic nuclei.
*Mitotic activity usu. very low.
*Calcification, hemorrhage, cystic and/or metaplastic changes may be seen.
*Most tumours show CNS grade 2 histology.
**CNS grade 3 tumours should be examined for MYCN amplification.
*Outcome usu. good, extent of resection is prognostic.


DDx (spinal ependymoma):
DDx (spinal ependymoma):
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*Small cell glioblastoma (MYCN-amplified spinal ependymoma)
*Small cell glioblastoma (MYCN-amplified spinal ependymoma)


====Images====
===Images===
www:
www:
*[http://www.flickr.com/photos/ckrishnan/3862487821/in/photostream Ependymoma (flickr.com)].
*[http://www.flickr.com/photos/ckrishnan/3862487821/in/photostream Ependymoma (flickr.com)].
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==Molecular==
==Molecular==
'''Supratentorial Ependymoma'''
*SE, ZFTA-fusion positive: Adults and children (up to 80% of cases).<ref>{{Cite journal  | last1 = Parker | first1 = M. | last2 = Mohankumar | first2 = KM. | last3 = Punchihewa | first3 = C. | last4 = Weinlich | first4 = R. | last5 = Dalton | first5 = JD. | last6 = Li | first6 = Y. | last7 = Lee | first7 = R. | last8 = Tatevossian | first8 = RG. | last9 = Phoenix | first9 = TN. | title = C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. | journal = Nature | volume = 506 | issue = 7489 | pages = 451-5 | month = Feb | year = 2014 | doi = 10.1038/nature13109 | PMID = 24553141 }}</ref>
**ZFTA-RELA fusion most common alteration.
**Chromothripsis.
**EPHB2 amplifications  and CDKN2A deletions in a subset of these tumors<ref>{{Cite journal  | last1 = Philip-Hollingsworth | first1 = S. | last2 = Hollingsworth | first2 = RI. | last3 = Dazzo | first3 = FB. | title = Host-range related structural features of the acidic extracellular polysaccharides of Rhizobium trifolii and Rhizobium leguminosarum. | journal = J Biol Chem | volume = 264 | issue = 3 | pages = 1461-6 | month = Jan | year = 1989 | doi =  | PMID = 2912966 }}</ref>
*SE, YAP-fusion positive.
**Restricted to children (6-7% of all supratentorial ependymomas).
**YAP-MAMLD fusion most common alteration.
'''Posterior fossa Ependymoma'''
Two distinct molecular subgroups exist in the posterior fossa:<ref>{{Cite journal  | last1 = Witt | first1 = H. | last2 = Mack | first2 = SC. | last3 = Ryzhova | first3 = M. | last4 = Bender | first4 = S. | last5 = Sill | first5 = M. | last6 = Isserlin | first6 = R. | last7 = Benner | first7 = A. | last8 = Hielscher | first8 = T. | last9 = Milde | first9 = T. | title = Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma. | journal = Cancer Cell | volume = 20 | issue = 2 | pages = 143-57 | month = Aug | year = 2011 | doi = 10.1016/j.ccr.2011.07.007 | PMID = 21840481 }}</ref>
Two distinct molecular subgroups exist in the posterior fossa:<ref>{{Cite journal  | last1 = Witt | first1 = H. | last2 = Mack | first2 = SC. | last3 = Ryzhova | first3 = M. | last4 = Bender | first4 = S. | last5 = Sill | first5 = M. | last6 = Isserlin | first6 = R. | last7 = Benner | first7 = A. | last8 = Hielscher | first8 = T. | last9 = Milde | first9 = T. | title = Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma. | journal = Cancer Cell | volume = 20 | issue = 2 | pages = 143-57 | month = Aug | year = 2011 | doi = 10.1016/j.ccr.2011.07.007 | PMID = 21840481 }}</ref>
* Group A ependymomas:
* Group A ependymomas:
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**gene expression profiles similar to that of spinal cord ependymomas.
**gene expression profiles similar to that of spinal cord ependymomas.
**increased Chromosomal 1q gains. <ref>{{Cite journal  | last1 = Korshunov | first1 = A. | last2 = Witt | first2 = H. | last3 = Hielscher | first3 = T. | last4 = Benner | first4 = A. | last5 = Remke | first5 = M. | last6 = Ryzhova | first6 = M. | last7 = Milde | first7 = T. | last8 = Bender | first8 = S. | last9 = Wittmann | first9 = A. | title = Molecular staging of intracranial ependymoma in children and adults. | journal = J Clin Oncol | volume = 28 | issue = 19 | pages = 3182-90 | month = Jul | year = 2010 | doi = 10.1200/JCO.2009.27.3359 | PMID = 20516456 }}</ref>
**increased Chromosomal 1q gains. <ref>{{Cite journal  | last1 = Korshunov | first1 = A. | last2 = Witt | first2 = H. | last3 = Hielscher | first3 = T. | last4 = Benner | first4 = A. | last5 = Remke | first5 = M. | last6 = Ryzhova | first6 = M. | last7 = Milde | first7 = T. | last8 = Bender | first8 = S. | last9 = Wittmann | first9 = A. | title = Molecular staging of intracranial ependymoma in children and adults. | journal = J Clin Oncol | volume = 28 | issue = 19 | pages = 3182-90 | month = Jul | year = 2010 | doi = 10.1200/JCO.2009.27.3359 | PMID = 20516456 }}</ref>
Supratentorial ependymomas have also a distinct profile:
*70 % of these ependymomas are ZFTA-fusion positive and have recurrent gene fusions mostly involving RELA<ref>{{Cite journal  | last1 = Parker | first1 = M. | last2 = Mohankumar | first2 = KM. | last3 = Punchihewa | first3 = C. | last4 = Weinlich | first4 = R. | last5 = Dalton | first5 = JD. | last6 = Li | first6 = Y. | last7 = Lee | first7 = R. | last8 = Tatevossian | first8 = RG. | last9 = Phoenix | first9 = TN. | title = C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. | journal = Nature | volume = 506 | issue = 7489 | pages = 451-5 | month = Feb | year = 2014 | doi = 10.1038/nature13109 | PMID = 24553141 }}</ref>
**EPHB2 amplifications  and CDKN2A deletions in a subset of these tumors<ref>{{Cite journal  | last1 = Philip-Hollingsworth | first1 = S. | last2 = Hollingsworth | first2 = RI. | last3 = Dazzo | first3 = FB. | title = Host-range related structural features of the acidic extracellular polysaccharides of Rhizobium trifolii and Rhizobium leguminosarum. | journal = J Biol Chem | volume = 264 | issue = 3 | pages = 1461-6 | month = Jan | year = 1989 | doi =  | PMID = 2912966 }}</ref>
*6-8% are YAP1-fusion positive, mostly MAMLD1 as fusion partner.
Note: Molecular subgroups have no treatment implications (at the moment).


==See also==
==See also==
Retrieved from "https://librepathology.org/wiki/Ependymoma"