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  Table of Contents    
LETTER TO EDITOR  
Year : 2014  |  Volume : 57  |  Issue : 4  |  Page : 655-656
Congenital cerebellar embryonal tumor with multilayered rosettes: Report of a rare case


1 Department of Pathology, Seth G.S. Medical College and K. E. M. Hospital, Mumbai, Maharashtra, India
2 Department of Neurosurgery, Seth G.S. Medical College and K. E. M. Hospital, Mumbai, Maharashtra, India

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Date of Web Publication11-Oct-2014
 

How to cite this article:
Ravindra N, Goel NA, Kothari KS, Mavani S. Congenital cerebellar embryonal tumor with multilayered rosettes: Report of a rare case. Indian J Pathol Microbiol 2014;57:655-6

How to cite this URL:
Ravindra N, Goel NA, Kothari KS, Mavani S. Congenital cerebellar embryonal tumor with multilayered rosettes: Report of a rare case. Indian J Pathol Microbiol [serial online] 2014 [cited 2020 Sep 21];57:655-6. Available from: http://www.ijpmonline.org/text.asp?2014/57/4/655/142722


Editor,

Embryonal tumor with multilayered rosettes (ETMR), previously known as embryonal tumor with abundant neuropil and true rosettes (ETANTR) is a rare, recently described, highly aggressive, embryonal pediatric central nervous system tumor. We report the first case of a congenital cerebellar ETANTR/ETMR.

A 1-month old preterm female child, born of a twin gestational pregnancy, presented with enlargement of the head since birth, associated with convulsions and upward gaze restriction. There were no neurological deficits, no neurocutaneous markers and anterior fontanelle was open. The other twin was normal.

The mother's antenatal ultrasonogram (USG) performed at 21 weeks of gestation had shown a dichorionic diamniotic twin gestation with no congenital anomalies, however, her third trimester USG had shown hydrocephalus in one of the fetuses.

Preoperative magnetic resonance imaging showed a well-defined mass in the region of the 4 th ventricle, hypointense on T1-weighted, hyperintense on T2-weighted, measuring 2.7 cm × 2.3 cm × 2.2 cm, with no significant postcontrast enhancement. Severe hydrocephalus was seen [Figure 1]a and b.
Figure 1: (a and b) Well defined mass in the 4th ventricle, hypo on T1-weighted, hyper on T2/FLAIR, measuring 2.7 cm × 2.3 cm × 2.2 cm, with severe hydrocephalus

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The baby underwent midline suboccipital craniotomy and excision of a cerebellar tumor. Microscopy showed cerebellar tissue with a tumor showing abundant and delicate, fibrillary neuropil, amidst which were seen cellular islands with prominent multilayered (ependymoblastic) rosettes. The rosettes were composed of primitive neuroepithelial cells. A few Homer-Wright rosettes were also seen in the cellular areas. The paucicellular neuropil showed scattered neurocytic cells [Figure 2]a-c. No teratomatous areas cells were seen. The tumor exhibited positivity for neuron-specific enolase and synaptophysin in the neuropil with Ki 67 demonstrating high activity within the rosettes [Figure 2]d-f. Glial fibrillary acidic protein, S-100 and Epithelial membrane antigen were negative, INI1 was expressed. Chemotherapy was started but she died 3 months later.
Figure 2: (a) Tumor with abundant neuropil and cellular islands (H and E, ×40) (b and c) Cellular islands with with multilayered ependymoblastic rosettes composed of small undifferentiated cells (H and E, ×100, H and E, ×400) (d) Ki67 showing high proliferative activity in the rosettes, inset: Higher magnification of the same (immunohistochemistry [IHC] ×40, inset ×100) (e and f) Synaptophysin and neuron-specific enolase showing positivity in the cellular and neuropil areas (IHC ×400)

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First described in 2000, about 72 cases are reported till date. [1] There has been much debate questioning the separation of ETANTR, ependymoblastoma (EBL) and medulloepithelioma (MEPL). In view of a common, unique, focal amplification at 19q13.42 in both ETANTR and EBL, Paulus and Kleihues in 2010 postulated that ETANTR and EBL constitute polar ends of a single tumor entity, which they named ETMR. [2],[3] This is further supported by a recent study by Korshunov on 97 cases comprising a mixture of ETANTRs, EBLs and MEPLs, 93% of the tumors showed amplifications at 19q13.42. Also, LIN28A, a recently described, highly sensitive and specific marker for ETMR, was found in all 97 samples. [4]

Embryonal tumor with multilayered rosettes usually affects children below the age of 4 years. [5] It affects girls more commonly than boys and is usually found in the supra-tentorial compartment (70.3%). Cerebellum is affected in 16.2% cases. [1] The presenting symptoms depend upon the site.

Current therapy includes surgical resection followed by chemotherapy and radiotherapy. The tumor is usually fatal within 5-30 months of diagnosis. [5]

Embryonal tumor with multilayered rosettes is a unique neoplasm with characteristic histological and cytogenetic features, a sensitive, specific immunohistochemical marker (LIN28A) and dismal prognosis with poor response to current treatment protocols when compared with other embryonal neoplasms. This warrants its classification as a distinct entity for development of molecularly targeted therapies.

 
   References Top

1.
Alexiou GA, Stefanaki K, Vartholomatos G, Sfakianos G, Prodromou N, Moschovi M. Embryonal tumor with abundant neuropil and true rosettes: A systematic literature review and report of 2 new cases. J Child Neurol 2013;28:1709-15.  Back to cited text no. 1
    
2.
Korshunov A, Remke M, Gessi M, Ryzhova M, Hielscher T, Witt H, et al. Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes. Acta Neuropathol 2010;120:253-60.  Back to cited text no. 2
    
3.
Paulus W, Kleihues P. Genetic profiling of CNS tumors extends histological classification. Acta Neuropathol 2010;120:269-70.  Back to cited text no. 3
    
4.
Korshunov A, Sturm D, Ryzhova M, Hovestadt V, Gessi M, Jones DT, et al. Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity. Acta Neuropathol 2014;128:279-89.  Back to cited text no. 4
    
5.
Adamek D, Sofowora KD, Cwiklinska M, Herman-Sucharska I, Kwiatkowski S. Embryonal tumor with abundant neuropil and true rosettes: An autopsy case-based update and review of the literature. Childs Nerv Syst 2013;29:849-54.  Back to cited text no. 5
    

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Correspondence Address:
Dr. Kanchan S Kothari
Department of Pathology, Seth G. S. Medical College and K. E. M. Hospital, Acharya Donde Marg, Parel, Mumbai - 400 012, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.142722

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