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HGNET-BCOR Tumors of the Cerebellum: Clinicopathologic and Molecular Characterization of 3 Cases
- Source :
- The American journal of surgical pathology. 41(9)
- Publication Year :
- 2017
-
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.
- Subjects :
- 0301 basic medicine
Male
Pathology
medicine.medical_specialty
Cerebellum
Clear-cell sarcoma of the kidney
Central nervous system
Biology
Pathology and Forensic Medicine
03 medical and health sciences
0302 clinical medicine
Proto-Oncogene Proteins
medicine
Humans
Cerebellar Neoplasms
Child
Temozolomide
Mesenchymal stem cell
medicine.disease
Neoplasms, Neuroepithelial
Irinotecan
Neuroepithelial cell
Repressor Proteins
030104 developmental biology
medicine.anatomical_structure
030220 oncology & carcinogenesis
Child, Preschool
Immunohistochemistry
Surgery
Female
Anatomy
medicine.drug
Subjects
Details
- ISSN :
- 15320979
- Volume :
- 41
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- The American journal of surgical pathology
- Accession number :
- edsair.doi.dedup.....f7c26da3b647975b151105fd11831bae