Difference between revisions of "Primitive neuroectodermal tumour"

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''' CNS Primitive neuroectodermal tumour''', abbreviated '''CNS-PNET''', is an uncommon [[neuropathology tumour]] in the group of embryonal tumours.
''' CNS Primitive neuroectodermal tumour''', abbreviated '''CNS-PNET''', is an abandoned [[neuropathology tumour]] description within in the group of embryonal tumours.
 
The terminology was introduced in 1973 <ref>{{Cite journal  | last1 = Hart | first1 = MN. | last2 = Earle | first2 = KM. | title = Primitive neuroectodermal tumors of the brain in children. | journal = Cancer | volume = 32 | issue = 4 | pages = 890-7 | month = Oct | year = 1973 | doi =  | PMID = 4751919 }}</ref> and used in the WHO 2007 classification of CNS tumors. Since 2016 this category has been replaced by the designation '''other CNS embryonal tumors'''.
It is also known as '' supratentorial primitive neuroepithelial tumour'' (supratentorial PNET).


==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.
*The former category contained a heterogenous group of poorly differentiated WHO grade IV tumours associated with following ICD-O codes:
*Mainly children and adolescents.
*Cerebral hemisphere, brain stem or spinal cord.
*There are currently five ICD-O codes assigned within this group:
**9473/3 CNS-PNET, NOS.
**9473/3 CNS-PNET, NOS.
**9500/3 CNS neuroblastoma.
**9500/3 CNS neuroblastoma.
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**9501/3 Medulloepithelioma.
**9501/3 Medulloepithelioma.
**9392/3 Ependymoblastoma.
**9392/3 Ependymoblastoma.
*Mainly children and adolescents.
*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>
* 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.
===Supratentorial PNET===
* This category of small round- and blue cell tumor was used in the WHO 2007 CNS tumor classification to separate them from medulloblastomas.
* Tumors are today classified as [[AT/RT]], [[Pineoblastoma]], [[ETMR]], H3F3A-mutated [[glioblastoma]] or CNS embryonal tumor, NOS.
===CNS neuroblastoma===
* Since WHO 2016 CNS classification this is now a subgroup of [[Other CNS embryonal tumours]].
* Many CNS neuroblastoma / CNS ganglioneuroblastoma cluster molecularly into a group designated as CNS NB-FOXR2.<ref>{{Cite journal  | last1 = Sturm | first1 = D. | last2 = Orr | first2 = BA. | last3 = Toprak | first3 = UH. | last4 = Hovestadt | first4 = V. | last5 = Jones | first5 = DTW. | last6 = Capper | first6 = D. | last7 = Sill | first7 = M. | last8 = Buchhalter | first8 = I. | last9 = Northcott | first9 = PA. | title = New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. | journal = Cell | volume = 164 | issue = 5 | pages = 1060-1072 | month = Feb | year = 2016 | doi = 10.1016/j.cell.2016.01.015 | PMID = 26919435 }}</ref>
*Usu Olig-2 +ve.
*Synaptophysin +ve.
===CNS ganglioneuroblastoma===
* This is now a subgroup of [[Other CNS embryonal tumours]].
===Lipomatous medulloblastoma===
* These tumors are now designated as [[Cerebellar liponeurocytoma]].


==Immunohistocehmistry==
===Melanotic medulloblastoma===
* In WHO CNS 1997 still a distinct tumor.
* These tumors are now considered a variant of [[medulloblastoma]].
 
===Medullomyoblastoma===
* Embryonal tumor with primitive neuronal cells and striated muscle component.
* First description in 1933.<ref>{{Cite journal  | last1 = Brody | first1 = BS. | last2 = German | first2 = WJ. | title = Medulloblastoma of the Cerebellum: A Report of 15 Cases. | journal = Yale J Biol Med | volume = 6 | issue = 1 | pages = 19-29 | month = Oct | year = 1933 | doi =  | PMID = 21433586 }}</ref>
* Since WHO 2007 CNS tumor classification tumors were classified as ''medulloblastoma with myogenic differentiation''.
 
===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>


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