Embryonal tumour with multilayered rosettes

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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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