Difference between revisions of "Embryonal tumour with multilayered rosettes"

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==General==
==General==
* Extremely rare.
* Extremely rare.
* Histologically WHO grade IV tumor.
* ETMR historically had been termed CNS PNET.
* ETMR historically had been termed CNS PNET.
* The WHO2016 CNS classification contains two groups:
* The WHO2016 CNS classification contains two groups:
**Embryonal tumour with multilayered rosettes, C19MC-altered.
**Embryonal tumour with multilayered rosettes, C19MC-altered.
**Embryonal tumour with multilayered rosettes, NOS.
**Embryonal tumour with multilayered rosettes, NOS.
Note:
ETMR is an umbrella term for tumors formerly known as:<ref>{{Cite journal  | last1 = Korshunov | first1 = A. | last2 = Sturm | first2 = D. | last3 = Ryzhova | first3 = M. | last4 = Hovestadt | first4 = V. | last5 = Gessi | first5 = M. | last6 = Jones | first6 = DT. | last7 = Remke | first7 = M. | last8 = Northcott | first8 = P. | last9 = Perry | first9 = A. | title = Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity. | journal = Acta Neuropathol | volume = 128 | issue = 2 | pages = 279-89 | month = Aug | year = 2014 | doi = 10.1007/s00401-013-1228-0 | PMID = 24337497 }}</ref>
*[[Embryonal tumour with abundant neuropil and true rosettes]] <ref name=pmid23863344>{{Cite journal  | last1 = Ceccom | first1 = J. | last2 = Bourdeaut | first2 = F. | last3 = Loukh | first3 = N. | last4 = Rigau | first4 = V. | last5 = Milin | first5 = S. | last6 = Takin | first6 = R. | last7 = Richer | first7 = W. | last8 = Uro-Coste | first8 = E. | last9 = Couturier | first9 = J. | title = Embryonal tumor with multilayered rosettes: diagnostic tools update and review of the literature. | journal = Clin Neuropathol | volume = 33 | issue = 1 | pages = 15-22 | month =  | year =  | doi = 10.5414/NP300636 | PMID = 23863344 }}</ref>
*[[Ependymoblastoma]] <ref name=pmid19120373>{{Cite journal  | last1 = Judkins | first1 = AR. | last2 = Ellison | first2 = DW. | title = Ependymoblastoma: dear, damned, distracting diagnosis, farewell!*. | journal = Brain Pathol | volume = 20 | issue = 1 | pages = 133-9 | month = Jan | year = 2010 | doi = 10.1111/j.1750-3639.2008.00253.x | PMID = 19120373 }}</ref>
*[[Medulloepithelioma]] <ref>{{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 = 35 | issue = 6 | pages = 538-44 | month = Dec | year = 2015 | doi = 10.1111/neup.12227 | PMID = 26183384 }}</ref>


==Clinical presentation==
==Clinical presentation==
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* Rarely cysts, calcifications.
* Rarely cysts, calcifications.
* Widespread infiltration.
* Widespread infiltration.
==Microscopy==
* Rosettes (often multilayered).
* Small cells.
* Fibrillar zones (neuropil-like areas).
* Neoplastic ganglion cells.
* Papillar and tubular growth (primitive neural tubes).
**PAS-positive membranes.
* Glial/neuronal maturation after treatment (rare).
<gallery>
File:Medulloepithelioma Histology.jpg | ETMR, medulloepithelioma type.
File:Ependymoblastoma.jpg | ETMR, ependymoblastoma type.
File:Ependymoblastoma ETMRjpg.jpg | ETMR, poorly undifferentiated cells.
File:Ependymoblastoma-Histology.jpg | ETMR, rosettes.
File:Neuroblasts ependymoblastoma.jpg | ETMR, ganglion cells.
</gallery>
DDx:
*[[AT/RT]].
*[[Medulloblastoma]].
*[[Ependymoma]].
* CNS embryonal tumor, NOS.
* Pediatric [[glioblastoma]].


==IHC==
==IHC==
*LIN28+ve.
*LIN28+ve.
<gallery>File:LIN28 ependymoblastoma.jpg| LIN28 positive ETMR.</gallery>
**Note: Some AT/RT may be focally +ve. <ref>{{Cite journal  | last1 = Rao | first1 = S. | last2 = Rajeswarie | first2 = RT. | last3 = Chickabasaviah Yasha | first3 = T. | last4 = Nandeesh | first4 = BN. | last5 = Arivazhagan | first5 = A. | last6 = Santosh | first6 = V. | title = LIN28A, a sensitive immunohistochemical marker for Embryonal Tumor with Multilayered Rosettes (ETMR), is also positive in a subset of Atypical Teratoid/Rhabdoid Tumor (AT/RT). | journal = Childs Nerv Syst | volume =  | issue =  | pages =  | month = Jul | year = 2017 | doi = 10.1007/s00381-017-3551-6 | PMID = 28744687 }}</ref>
*CD99: focally +ve.
*Synaptophysin: Neuropil-like areas +ve.
*GFAP: usu -ve.
*INI1 +ve.
*Mib1: 20-80%.
 
<gallery>
File:LIN28 ependymoblastoma.jpg| LIN28 positive ETMR.
File:MIB1 ependymoblastoma.jpg | MIB1 in ETMR rosettes.
</gallery>
 
==Molecular==
*Chr 2 gain.
*C19MC amplification. <ref>{{Cite journal  | last1 = Spence | first1 = T. | last2 = Sin-Chan | first2 = P. | last3 = Picard | first3 = D. | last4 = Barszczyk | first4 = M. | last5 = Hoss | first5 = K. | last6 = Lu | first6 = M. | last7 = Kim | first7 = SK. | last8 = Ra | first8 = YS. | last9 = Nakamura | first9 = H. | title = CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity. | journal = Acta Neuropathol | volume = 128 | issue = 2 | pages = 291-303 | month = Aug | year = 2014 | doi = 10.1007/s00401-014-1291-1 | PMID = 24839957 }}</ref>
*Some rare LIN28+ve cases without C19MC amplification may show DICER1 mutations.<ref>{{Cite journal  | last1 = Uro-Coste | first1 = E. | last2 = Masliah-Planchon | first2 = J. | last3 = Siegfried | first3 = A. | last4 = Blanluet | first4 = M. | last5 = Lambo | first5 = S. | last6 = Kool | first6 = M. | last7 = Roujeau | first7 = T. | last8 = Boetto | first8 = S. | last9 = Palenzuela | first9 = G. | title = ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors. | journal = Acta Neuropathol | volume = 137 | issue = 1 | pages = 175-177 | month = Jan | year = 2019 | doi = 10.1007/s00401-018-1935-7 | PMID = 30446821 }}</ref>
 
==See also==
*[[Embryonal tumour with abundant neuropil and true rosettes]].
*[[Ependymoblastoma]].
*[[Medulloepithelioma]].
 
==References==
{{Reflist|1}}
 
[[Category:Diagnosis]]
[[Category:Neuropathology tumours]]

Latest revision as of 09:09, 23 January 2019

Embryonal tumour with multilayered rosettes, abbreviated ETMR, is a very rare neuropathology embryonal tumour with aggressive behaviour.

General

  • Extremely rare.
  • Histologically WHO grade IV tumor.
  • ETMR historically had been termed CNS PNET.
  • The WHO2016 CNS classification contains two groups:
    • Embryonal tumour with multilayered rosettes, C19MC-altered.
    • Embryonal tumour with multilayered rosettes, NOS.

Note: ETMR is an umbrella term for tumors formerly known as:[1]


Clinical presentation

  • Usu. age <4 years.
  • 70% supratentorial, 30% infratentorial.
  • Raised intracranial pressure.

Imaging

  • Usu. enhancing.
  • Rarely cysts, calcifications.
  • Widespread infiltration.

Microscopy

  • Rosettes (often multilayered).
  • Small cells.
  • Fibrillar zones (neuropil-like areas).
  • Neoplastic ganglion cells.
  • Papillar and tubular growth (primitive neural tubes).
    • PAS-positive membranes.
  • Glial/neuronal maturation after treatment (rare).

  • ETMR, medulloepithelioma type.

  • ETMR, ependymoblastoma type.

  • ETMR, poorly undifferentiated cells.

  • ETMR, rosettes.

  • ETMR, ganglion cells.

DDx:

IHC

  • LIN28+ve.
    • Note: Some AT/RT may be focally +ve. [5]
  • CD99: focally +ve.
  • Synaptophysin: Neuropil-like areas +ve.
  • GFAP: usu -ve.
  • INI1 +ve.
  • Mib1: 20-80%.

  • LIN28 positive ETMR.

  • MIB1 in ETMR rosettes.

Molecular

  • Chr 2 gain.
  • C19MC amplification. [6]
  • Some rare LIN28+ve cases without C19MC amplification may show DICER1 mutations.[7]

See also

References

  1. ↑ Korshunov, A.; Sturm, D.; Ryzhova, M.; Hovestadt, V.; Gessi, M.; Jones, DT.; Remke, M.; Northcott, P. et al. (Aug 2014). "Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity.". Acta Neuropathol 128 (2): 279-89. doi:10.1007/s00401-013-1228-0. PMID 24337497.
  2. ↑ Ceccom, J.; Bourdeaut, F.; Loukh, N.; Rigau, V.; Milin, S.; Takin, R.; Richer, W.; Uro-Coste, E. et al. "Embryonal tumor with multilayered rosettes: diagnostic tools update and review of the literature.". Clin Neuropathol 33 (1): 15-22. doi:10.5414/NP300636. PMID 23863344.
  3. ↑ Judkins, AR.; Ellison, DW. (Jan 2010). "Ependymoblastoma: dear, damned, distracting diagnosis, farewell!*.". Brain Pathol 20 (1): 133-9. doi:10.1111/j.1750-3639.2008.00253.x. PMID 19120373.
  4. ↑ Korshunov, A.; Jakobiec, FA.; Eberhart, CG.; Hovestadt, V.; Capper, D.; Jones, DT.; Sturm, D.; Stagner, AM. et al. (Dec 2015). "Comparative integrated molecular analysis of intraocular medulloepitheliomas and central nervous system embryonal tumors with multilayered rosettes confirms that they are distinct nosologic entities.". Neuropathology 35 (6): 538-44. doi:10.1111/neup.12227. PMID 26183384.
  5. ↑ Rao, S.; Rajeswarie, RT.; Chickabasaviah Yasha, T.; Nandeesh, BN.; Arivazhagan, A.; Santosh, V. (Jul 2017). "LIN28A, a sensitive immunohistochemical marker for Embryonal Tumor with Multilayered Rosettes (ETMR), is also positive in a subset of Atypical Teratoid/Rhabdoid Tumor (AT/RT).". Childs Nerv Syst. doi:10.1007/s00381-017-3551-6. PMID 28744687.
  6. ↑ Spence, T.; Sin-Chan, P.; Picard, D.; Barszczyk, M.; Hoss, K.; Lu, M.; Kim, SK.; Ra, YS. et al. (Aug 2014). "CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity.". Acta Neuropathol 128 (2): 291-303. doi:10.1007/s00401-014-1291-1. PMID 24839957.
  7. ↑ Uro-Coste, E.; Masliah-Planchon, J.; Siegfried, A.; Blanluet, M.; Lambo, S.; Kool, M.; Roujeau, T.; Boetto, S. et al. (Jan 2019). "ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.". Acta Neuropathol 137 (1): 175-177. doi:10.1007/s00401-018-1935-7. PMID 30446821.
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