Journal Article

DKFZ-2017-06155

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png HGNET-BCOR Tumors of the Cerebellum: Clinicopathologic and Molecular Characterization of 3 Cases.

Appay, R. ; Macagno, N. ; Padovani, L. ; Korshunov, A.DKFZ* ; Kool, M.DKFZ* ; André, N. ; Scavarda, D. ; Pietsch, T. ; Figarella-Branger, D.

2017
Lippincott Williams & Wilkins Philadelphia, Pa.

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Please use a persistent id in citations: doi:10.1097/PAS.0000000000000866

Abstract: The central nervous system (CNS) high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR) is a recently described molecular entity. We report 3 new CNS HGNET-BCOR cases sharing common clinical presentation and pathologic features. The 3 cases concerned children aged 3 to 7 years who presented with a voluminous mass of the cerebellum. Pathologic features included proliferation of uniform spindle to ovoid cells with fine chromatin associated with a rich arborizing capillary network. Methylation profiling classified these cases as CNS HGNET-BCOR tumors. Polymerase chain reaction analysis confirmed the presence of internal tandem duplications in the C-terminus of BCOR (BCOR-ITD), a characteristic of these tumors, in all 3 cases. Immunohistochemistry showed a strong nuclear BCOR expression. In 2 cases, local recurrence occurred within 6 months. The third case, a patient who received a craniospinal irradiation after total surgical removal followed by a metronomics maintenance with irinotecan, temozolomide, and itraconazole, is still free of disease 14 months after diagnosis. In summary, CNS HGNET-BCOR represents a rare tumor occurring in young patients with dismal prognosis. BCOR nuclear immunoreactivity is highly suggestive of a BCOR-ITD. Whether CNS HGNET-BCOR should be classified among the category of 'embryonal tumors' or within the category of 'mesenchymal, nonmeningothelial tumors' remains to be clarified. Because CNS HGNET-BCOR share pathologic features and characteristic BCOR-ITD with clear cell sarcoma of the kidney, these tumors may represent local variants of the same entity.

Keyword(s): BCOR protein, human ; Proto-Oncogene Proteins ; Repressor Proteins

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Contributing Institute(s):

1. KKE Neuropathologie (G380)
2. Pädiatrische Neuroonkologie (B062)
3. DKTK Heidelberg (L101)

Research Program(s):

1. 319H - Addenda (POF3-319H) (POF3-319H)

Appears in the scientific report 2017

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Database coverage:
; Allianz-Lizenz ; BIOSIS Previews ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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