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Primitive neuroectodermal tumour (view source)
Revision as of 09:07, 9 October 2015
, 09:07, 9 October 2015update + images
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==General== | ==General== | ||
*Should '''not''' be confused with ''peripheral primitive neuroectodermal tumour'' (abbreviated ''[[pPNET]]''<ref name=PST14feb11>PST. 14 February 2011.</ref>), [[AKA]] ''[[Ewing sarcoma]]''. | *Should '''not''' be confused with ''peripheral primitive neuroectodermal tumour'' (abbreviated ''[[pPNET]]''<ref name=PST14feb11>PST. 14 February 2011.</ref>), [[AKA]] ''[[Ewing sarcoma]]''. | ||
*Currently contains a heterogenous group of poorly differentiated WHO grade IV tumours. Major reoganisation of this group will occur in the upcoming WHO classification. | *Currently contains a heterogenous group of poorly differentiated WHO grade IV tumours. '''Major reoganisation of this group will occur in the upcoming WHO classification.''' | ||
*Mainly children and adolescents. | *Mainly children and adolescents. | ||
*Cerebral hemisphere, brain stem or spinal cord. | *Cerebral hemisphere, brain stem or spinal cord. | ||
*Cerebrospinal dissemination found in up to 1/3 patients.<ref name="pmid1030655">{{Cite journal | last1 = Horten | first1 = BC. | last2 = Rubinstein | first2 = LJ. | title = Primary cerebral neuroblastoma. A clinicopathological study of 35 cases. | journal = Brain | volume = 99 | issue = 4 | pages = 735-56 | month = Dec | year = 1976 | doi = | PMID = 1030655 }}</ref> | |||
*There are currently five ICD-O codes assigned within this group: | *There are currently five ICD-O codes assigned within this group: | ||
**9473/3 CNS-PNET, NOS. | **9473/3 CNS-PNET, NOS. | ||
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**9501/3 Medulloepithelioma. | **9501/3 Medulloepithelioma. | ||
**9392/3 Ependymoblastoma. | **9392/3 Ependymoblastoma. | ||
* Very poor prognosis<ref name="pmid26304823">{{Cite journal | last1 = Tulla | first1 = M. | last2 = Berthold | first2 = F. | last3 = Graf | first3 = N. | last4 = Rutkowski | first4 = S. | last5 = von Schweinitz | first5 = D. | last6 = Spix | first6 = C. | last7 = Kaatsch | first7 = P. | title = Incidence, Trends, and Survival of Children With Embryonal Tumors. | journal = Pediatrics | volume = 136 | issue = 3 | pages = e623-32 | month = Sep | year = 2015 | doi = 10.1542/peds.2015-0224 | PMID = 26304823 }}</ref> | |||
==Microscopic== | ==Microscopic== | ||
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*[[Small round blue cell tumour]]. | *[[Small round blue cell tumour]]. | ||
** Focal differentation into astrocytic, neuronal or ependymal phenotypes possible. | ** Focal differentation into astrocytic, neuronal or ependymal phenotypes possible. | ||
*May have true rosettes (slit-like/oval). | |||
*Growth in streams or palisades possible ("spongioneuroblastoma"). | |||
*Vascular endothelial proliferations. | |||
*Fibrillary background in tumours with advanced neuronal maturation (ganglioneuroblastomas). | |||
*Variable mitotic activity. | |||
== | ===Medulloepithelioma=== | ||
*Neuroepithelial tumor cells arranged papillary, tubular or trabecular. | |||
*Pseudostratified with PAS-positive membrane. | |||
*Medulloepithelioma are grouped with ependymoblastomas and [[ETANTR]] into embryonal tumors with multilayered rosettes ([[ETMR]]).<ref name="pmid26438544">{{Cite journal | last1 = Horwitz | first1 = M. | last2 = Dufour | first2 = C. | last3 = Leblond | first3 = P. | last4 = Bourdeaut | first4 = F. | last5 = Faure-Conter | first5 = C. | last6 = Bertozzi | first6 = AI. | last7 = Delisle | first7 = MB. | last8 = Palenzuela | first8 = G. | last9 = Jouvet | first9 = A. | title = Embryonal tumors with multilayered rosettes in children: the SFCE experience. | journal = Childs Nerv Syst | volume = | issue = | pages = | month = Oct | year = 2015 | doi = 10.1007/s00381-015-2920-2 | PMID = 26438544 }}</ref> | |||
*'''Not''' the same tumour as the intraocular medulloepithelioma.<ref name="pmid26183384">{{Cite journal | last1 = Korshunov | first1 = A. | last2 = Jakobiec | first2 = FA. | last3 = Eberhart | first3 = CG. | last4 = Hovestadt | first4 = V. | last5 = Capper | first5 = D. | last6 = Jones | first6 = DT. | last7 = Sturm | first7 = D. | last8 = Stagner | first8 = AM. | last9 = Edward | first9 = DP. | title = Comparative integrated molecular analysis of intraocular medulloepitheliomas and central nervous system embryonal tumors with multilayered rosettes confirms that they are distinct nosologic entities. | journal = Neuropathology | volume = | issue = | pages = | month = Jul | year = 2015 | doi = 10.1111/neup.12227 | PMID = 26183384 }}</ref> | |||
<gallery> | |||
File:Medulloepithelioma_Histology.jpg | Medulloepithelioma/ETMR ([[H&E]]) | |||
File:Ependymoblastoma_ETMRjpg.jpg | Medulloepithelioma/ETMR ([[H&E]]) | |||
File:Medulloepitheliom_high.jpg | Medulloepithelioma/ETMR ([[H&E]]) | |||
</gallery> | |||
===Ependymoblastoma=== | |||
*Often supratentorial, well circumscribed. | |||
*Multilayered ("ependymoblastous") rosettes. | |||
*High mitotic and proliferative activity | |||
*Ependymoblastoma are grouped with medulloepithelioma and [[ETANTR]] into embryonal tumors with multilayered rosettes ([[ETMR]]).<ref name="pmid26438544">{{Cite journal | last1 = Horwitz | first1 = M. | last2 = Dufour | first2 = C. | last3 = Leblond | first3 = P. | last4 = Bourdeaut | first4 = F. | last5 = Faure-Conter | first5 = C. | last6 = Bertozzi | first6 = AI. | last7 = Delisle | first7 = MB. | last8 = Palenzuela | first8 = G. | last9 = Jouvet | first9 = A. | title = Embryonal tumors with multilayered rosettes in children: the SFCE experience. | journal = Childs Nerv Syst | volume = | issue = | pages = | month = Oct | year = 2015 | doi = 10.1007/s00381-015-2920-2 | PMID = 26438544 }}</ref> | |||
<gallery> | |||
File:Ependymoblastoma.jpg | Ependymoblastoma. (WC/AFIP) | |||
File:Ependymoblastomatous_Rosette.jpg | Ependymoblastous rosettes. | |||
File:MIB1_ependymoblastoma.jpg | MIB-1 in ependymoblastous rosettes. | |||
</gallery> | |||
==Immunohistochemistry== | |||
* S-100 +ve. | * S-100 +ve. | ||
* INI1 +ve (loss defines tumour as [[ATRT]]). | * [[INI1]] +ve (loss defines tumour as [[ATRT]]). | ||
* [[LIN28]]+ve (in [[ETMR]]), otherwise -ve. <ref>{{Cite journal | last1 = Korshunov | first1 = A. | last2 = Ryzhova | first2 = M. | last3 = Jones | first3 = DT. | last4 = Northcott | first4 = PA. | last5 = van Sluis | first5 = P. | last6 = Volckmann | first6 = R. | last7 = Koster | first7 = J. | last8 = Versteeg | first8 = R. | last9 = Cowdrey | first9 = C. | title = LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR). | journal = Acta Neuropathol | volume = 124 | issue = 6 | pages = 875-81 | month = Dec | year = 2012 | doi = 10.1007/s00401-012-1068-3 | PMID = 23161096 }}</ref> | |||
* Nestin +ve | |||
* [[MAP2]] +ve/-ve | |||
* Vimentin +ve | |||
* [[IDH-1]] -ve | |||
* No [[ATRX]] loss | |||
* MIB-1 between 20-80% (usu. 50%) | |||
==Molecular genetics== | |||
Divergent molecular subgroups are emerging: | |||
* Loss of 9q / CDKN2A deletions in CNS neuroblastoma<ref>{{Cite journal | last1 = Pfister | first1 = S. | last2 = Remke | first2 = M. | last3 = Toedt | first3 = G. | last4 = Werft | first4 = W. | last5 = Benner | first5 = A. | last6 = Mendrzyk | first6 = F. | last7 = Wittmann | first7 = A. | last8 = Devens | first8 = F. | last9 = von Hoff | first9 = K. | title = Supratentorial primitive neuroectodermal tumors of the central nervous system frequently harbor deletions of the CDKN2A locus and other genomic aberrations distinct from medulloblastomas. | journal = Genes Chromosomes Cancer | volume = 46 | issue = 9 | pages = 839-51 | month = Sep | year = 2007 | doi = 10.1002/gcc.20471 | PMID = 17592618 }}</ref> | |||
*Amplification 19q13.42 in [[ETMR]]<ref>{{Cite journal | last1 = Korshunov | first1 = A. | last2 = Remke | first2 = M. | last3 = Gessi | first3 = M. | last4 = Ryzhova | first4 = M. | last5 = Hielscher | first5 = T. | last6 = Witt | first6 = H. | last7 = Tobias | first7 = V. | last8 = Buccoliero | first8 = AM. | last9 = Sardi | first9 = I. | title = Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes. | journal = Acta Neuropathol | volume = 120 | issue = 2 | pages = 253-60 | month = Aug | year = 2010 | doi = 10.1007/s00401-010-0688-8 | PMID = 20407781 }}</ref> | |||
DDx: | DDx: | ||
* Small round blue cell tumours | * Small round blue cell tumours | ||
* [[Medulloblastoma]] | * [[Medulloblastoma]] | ||
* [[ATRT]] | * [[ATRT]] (INI1 loss) | ||
*[[Embryonal tumour with abundant neuropil and true rosettes]] (ETANTR).<ref name=pmid19563506>{{cite journal |author=Buccoliero AM, Castiglione F, Degl'Innocenti DR, ''et al.'' |title=Embryonal tumor with abundant neuropil and true rosettes: morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of mesenchymal and epithelial differentiation |journal=Neuropathology |volume=30 |issue=1 |pages=84–91 |year=2010 |month=February |pmid=19563506 |doi=10.1111/j.1440-1789.2009.01040.x |url=}}</ref> | * Anaplastic [[ependymoma]] (RELA fusions) | ||
* Paediatric [[glioblastoma]] (IDH1/2) and (H3F3A mutations) | |||
*[[Embryonal tumour with abundant neuropil and true rosettes]] (ETANTR) - currently no distinct WHO entity.<ref name=pmid19563506>{{cite journal |author=Buccoliero AM, Castiglione F, Degl'Innocenti DR, ''et al.'' |title=Embryonal tumor with abundant neuropil and true rosettes: morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of mesenchymal and epithelial differentiation |journal=Neuropathology |volume=30 |issue=1 |pages=84–91 |year=2010 |month=February |pmid=19563506 |doi=10.1111/j.1440-1789.2009.01040.x |url=}}</ref> | |||
===Images=== | ===Images=== | ||