Top

Child's Nervous System

Published in:

01-12-2018 | Case-Based Update

Embryonal tumor with multilayered rosettes: illustrative case and review of the literature

Authors: Sofiene Bouali, Alia Zehani, Maha Mahmoud, Imed Ben Said, Jalel Kallel, Hafedh Jemel

Published in: Child's Nervous System | Issue 12/2018

Abstract

Background

Embryonal tumor with multilayered rosettes (ETMR) is a very rare entity and has seldom been reported. It has been newly defined tumor entity included in the latest update (revised fourth edition) of WHO 2016 Classification of Tumors of the Central Nervous System which portends a uniform dismal prognosis and survival even with the best of multimodality approaches.

Illustrative case

This report documents the presentation of a 2-year-old girl with voluminous intracranial ETMR in the right parieto-occipital region. We describe clinical diagnosis, histological aspects, radiological features, and current management of this very aggressive tumor.

Conclusion

Pediatric intracranial ETMR is a highly aggressive neoplasm, and it should be considered in the differential diagnosis of pediatric brain tumors.

Korshunov A, Sturm D, Ryzhova M, Hovestadt V, Gessi M, Jones DTW, Remke M, Northcott P, Perry A, Picard D, Rosenblum M, Antonelli M, Aronica E, Schüller U, Hasselblatt M, Woehrer A, Zheludkova O, Kumirova E, Puget S, Taylor MD, Giangaspero F, Peter Collins V, von Deimling A, Lichter P, Huang A, Pietsch T, Pfister SM, Kool M (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):279–289CrossRef

Edmonson CA, Weaver KJ, Kresak J, Pincus DW (2015) Embryonal tumor with multilayered rosettes of the fourth ventricle: case report. J Neurosurg Pediatr 16:579–583. https://doi.org/10.3171/2015.3.PEDS1525 CrossRefPubMed

Eberhart CG, Brat DJ, Cohen KJ, Burger PC (2000) Pediatric neuroblastic brain tumors containing abundant neuropil and true rosettes. Pediatr Dev Pathol 3(4):346–352CrossRef

Tariq MU, Ahmad Z, Minhas MK, Memon A, Mushtaq N, Hawkins C (2017) Embryonal tumor with multilayered rosettes, C19MC-altered: report of an extremely rare malignant pediatric central nervous system neoplasm. SAGE Open Medical Case Reports 5:2050313X17745208. https://doi.org/10.1177/2050313X17745208 CrossRefPubMedPubMedCentral

Nobusawa S, Yokoo H, Hirato J, Kakita A, Takahashi H, Sugino T, Tasaki K, Itoh H, Hatori T, Shimoyama Y, Nakazawa A, Nishizawa S, Kishimoto H, Matsuoka K, Nakayama M, Okura N, Nakazato Y (2012) Analysis of chromosome 19q13.42 amplification in embryonal brain tumors with ependymoblastic multilayered rosettes. Brain Pathol 22(5):689–697. https://doi.org/10.1111/j.1750-3639.2012.00574.x CrossRefPubMed

Ceccom J, Bourdeaut F, Loukh N, Rigau V, Milin S, Takin R, Richer W, Uro-Coste E, Couturier J, Bertozzi AI, Delattre O, Delisle MB (2014) Embryonal tumor with multilayered rosettes: diagnostic tools update and review of the literature. Clin Neuropathol 33(1):15–22. https://doi.org/10.5414/NP300636 CrossRefPubMed

Rao S, Rajeswarie RT, Chickabasaviah YT, Nandeesh BN, Arivazhagan A, Santosh V (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 33(11):1953–1959. https://doi.org/10.1007/s00381-017-3551-6 CrossRefPubMed

Spence T, Sin-Chan P, Picard D, Barszczyk M, Hoss K, Lu M, Kim SK, Ra YS, Nakamura H, Fangusaro J, Hwang E, Kiehna E, Toledano H, Wang Y, Shi Q, Johnston D, Michaud J, la Spina M, Buccoliero AM, Adamek D, Camelo-Piragua S, Peter Collins V, Jones C, Kabbara N, Jurdi N, Varlet P, Perry A, Scharnhorst D, Fan X, Muraszko KM, Eberhart CG, Ng HK, Gururangan S, van Meter T, Remke M, Lafay-Cousin L, Chan JA, Sirachainan N, Pomeroy SL, Clifford SC, Gajjar A, Shago M, Halliday W, Taylor MD, Grundy R, Lau CC, Phillips J, Bouffet E, Dirks PB, Hawkins CE, Huang A (2014) CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity. Acta Neuropathol 128:291–303CrossRef

Horwitz M, Dufour C, Leblond P, Bourdeaut F, Faure-Conter C, Bertozzi AI, Delisle MB, Palenzuela G, Jouvet A, Scavarda D, Vinchon M, Padovani L, Gaudart J, Branger DF, Andre N (2016) Embryonal tumors with multilayered rosettes in children: the SFCE experience. Childs Nerv Syst 32:299–305. https://doi.org/10.1007/s00381-015-2920-2 CrossRefPubMed

10.

Picard D, Miller S, Hawkins CE, Bouffet E, Rogers HA, Chan TSY et al (2012) Markers of survival and metastatic potential in childhood CNS primitive neuro-ectodermal brain tumours: an integrative genomic analysis. Lancet Oncol 13(8):838–848CrossRef

11.

Frazier AA (2018) Four levels of diagnosis in the rare pediatric embryonal tumor of the CNS called embryonal tumor with multilayered rosettes. Radiographics 38(2):524. https://doi.org/10.1148/rg.2018184003 CrossRefPubMed

12.

Wang B, Gogia B, Fuller GN, Ketonen LM (2018) Embryonal tumor with multilayered rosettes, C19MC-altered: clinical, pathological, and neuroimaging findings. J Neuroimaging 28:483–489. https://doi.org/10.1111/jon.12524 CrossRefPubMed

13.

Govindan A, Alapatt JP (2017, 2017) Embryonal tumor with multilayered rosettes in a 3-year-old girl: case report. Turk Neurosurg. https://doi.org/10.5137/1019-5149.JTN.19621-16.0

14.

Pfister S, Remke M, Castoldi M, Bai AHC, Muckenthaler MU, Kulozik A, von Deimling A, Pscherer A, Lichter P, Korshunov A (2009) Novel genomic amplification targeting the microRNA cluster at 19q13.42 in a pediatric embryonal tumor with abundantneuropil and true rosettes. Acta Neuropathol 117:457–464CrossRef

15.

Korshunov A, Ryzhova M, Jones DTW, Northcott PA, van Sluis P, Volckmann R, Koster J, Versteeg R, Cowdrey C, Perry A, Picard D, Rosenblum M, Giangaspero F, Aronica E, Schüller U, Hasselblatt M, Collins VP, von Deimling A, Lichter P, Huang A, Pfister SM, Kool M (2012) LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR). Acta Neuropathol 124:875–881CrossRef

16.

Leal Ferman L, Daigle P, Weil A, Ellezam B, Hamel P, Perreault S (2018) Embryonal tumor with multilayered rosettes presenting with intermittent third nerve palsy. Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques 45(4):483–484. https://doi.org/10.1017/cjn.2018.23 CrossRefPubMed

17.

Gupta K, Singh V, Aggarwal A, Salunke P (2018) Embryonal tumor with multilayered rosettes: diagnosis on intra-operative squash smear. Neuropathology 38(4):387–391. https://doi.org/10.1111/neup.12460 CrossRef

18.

Tanaka H, Yamamoto D, Ikeda M, Morikawa M, Ueda K, Tanaka K, Sasayama T, Kohmura E (2018) Embryonal brain tumor with unknown primary lesion and massive cerebrospinal fluid dissemination: a case report. J Clin Neurosci 54:125–128CrossRef

19.

Li Q, Chen N, Ju Y (2018) Infantile medulloepithelioma in the lateral ventricle and cerebellopontine angle: two case reports. Medicine 97(20):e10751. https://doi.org/10.1097/MD.0000000000010751 CrossRefPubMedPubMedCentral

20.

Grassham CD, Rady S, Foster K, SantaCruz KS, Kuttesch JF, Maxwell JR (2018, 2018) A congenital case of ependymoblastoma: a rare and aggressive brain tumor. J Pediatr Hematol Oncol 1. https://doi.org/10.1097/MPH.0000000000001117

21.

Shah AH, Khatib Z, Niazi T (2018) Extracranial extra-CNS spread of embryonal tumor with multilayered rosettes (ETMR): case series and systematic review. Childs Nerv Syst 34:649–654. https://doi.org/10.1007/s00381-017-3657-x CrossRefPubMed

22.

Chen SH, Ho CS, Chiu NC, Chen HJ, Lin YJ (2017) Rare brain tumor in a neonate. J Med Ultrasound 25(4):240–243. https://doi.org/10.1016/j.jmu.2017.09.004 CrossRefPubMedPubMedCentral

23.

Mozes P, Hauser P, Hortobágyi T, Benyó G, Peták I, Garami M, Cserháti A, Bartyik K, Bognár L, Nagy Z, Turányi E, Hideghéty K (2016) Evaluation of the good tumor response of embryonal tumor with abundant neuropil and true rosettes (ETANTR). J Neuro-Oncol 126:99–105. https://doi.org/10.1007/s11060-015-1938-3 CrossRef

24.

Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA, Rorke-Adams LB, Fisher MJ, Janss A, Mazewski C, Goldman S, Manley PE, Bowers DC, Bendel A, Rubin J, Turner CD, Marcus KJ, Goumnerova L, Ullrich NJ, Kieran MW (2009) Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol 27(3):385–389. https://doi.org/10.1200/JCO.2008.18.7724 CrossRefPubMedPubMedCentral

25.

Korshunov A, Remke M, Gessi M, Ryzhova M, Hielscher T, Witt H, Tobias V, Buccoliero AM, Sardi I, Gardiman MP, Bonnin J, Scheithauer B, Kulozik AE, Witt O, Mork S, von Deimling A, Wiestler OD, Giangaspero F, Rosenblum M, Pietsch T, Lichter P, Pfister SM (2010) Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes. Acta Neuropathol 120(2):253–260CrossRef

26.

Dufour C, Delisle M-B, Geoffray A, Laplanche A, Frappaz D, Icher C et al (2014) CT-003. Tandem high-dose chemotherapy with stem cell rescue followed by risk-adapted radiation in children with high-risk cerebral primitive neuroectodermal tumor: results of the prospective sfce-trial pnet hr + 5. Neuro-Oncology 16(suppl 1):i10–i13CrossRef

27.

Padovani L, André N, Constine LS, Muracciole X (2012) Neurocognitive function after radiotherapy for paediatric brain tumours. Nat Rev Neurol 8(10):578–588CrossRef

Title: Embryonal tumor with multilayered rosettes: illustrative case and review of the literature
Authors: Sofiene Bouali
Alia Zehani
Maha Mahmoud
Imed Ben Said
Jalel Kallel
Hafedh Jemel
Publication date: 01-12-2018
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 12/2018
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-018-3972-x

At a glance: The STEP trials

Springer Medicine

Embryonal tumor with multilayered rosettes: illustrative case and review of the literature

Abstract

Background

Illustrative case

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Illustrative case

Conclusion

Please log in to get access to this content

Other articles of this Issue 12/2018

A comprehensive review of Mongolian spots with an update on atypical presentations

A case of symmetric retrograde thromboembolic cerebral infarction in an 8-year-old child due to arterial thoracic outlet syndrome

Short versus mid-long-term outcome of transanal irrigation in children with spina bifida and anorectal malformations

Control of metopic emissary veins in trigonocephaly surgery. Technical note

A case of transient thalamic dysphasia—considering the role of the thalamus in language

Endoscopic treatment of intraventricular ependymal cysts in children: personal experience and review of literature