CNS Tumor with BCOR Internal Tandem Duplication: The First Case in Southeast Asia

Main Article Content

Thitiporn Fangsaad
Surakarn Jansutjawan
Patsook Kittikakul
Siriluk Assawabumrungkul
Nattaporntira Phalakornkul
Artit Jinawath
Chinnachote Teerapakpinyo
Thiamjit Chaichana
Shanop Shuangshoti
Sakun Santisukwongchote

Abstract

The central nervous system (CNS) tumor with BCOR internal tandem duplication (ITD) or high-grade neuroepithelial tumor with BCOR alterations (HGNET-BCOR) has been proposed as a new entity of CNS embryonal tumor. We report herein the first case of CNS tumor with BCOR ITD in Southeast Asia. The patient was a 2-year-old girl who presented with head tilt and ataxia. CNS showed a posterior fossa mass, 5.7x5.2x4.2 cm, with faint enhancement and internal hemorrhage. The lesion was removed, and the pathological examination revealed a hypercellular tumor comprising neoplastic cells with oval hyperchromatic nuclei. Perivascular pattern was occasionally observed. Pseudopalisading necrosis was seen but microvascular proliferation was absent. Although the clinical features of HGNET-BCOR are not distinctive and may overlap with other high-grade primary CNS tumors, awareness of the pathological features and the positive BCOR immunostain should lead to a final diagnosis with the identification of BCOR ITD using a molecular method.

Downloads

Download data is not yet available.

Article Details

How to Cite
1.
Fangsaad T, Jansutjawan S, Kittikakul P, Assawabumrungkul S, Phalakornkul N, Jinawath A, Teerapakpinyo C, Chaichana T, Shuangshoti S, Santisukwongchote S. CNS Tumor with BCOR Internal Tandem Duplication: The First Case in Southeast Asia. BKK Med J [Internet]. 2022 Sep. 30 [cited 2022 Dec. 4];18(2):121. Available from: https://he02.tci-thaijo.org/index.php/bkkmedj/article/view/256012
Section
Case Report

References

References

Hart MN, Earle KM. Primitive neuroectodermal tumors of the brain in children. Cancer. 1973;32:890-7.

Sturm D, Orr BA, Toprak UH, et al. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. Cell. 2016;164:1060-72.

Haberler C, Reiniger L, Rajnai H, et al. Case of the month 1-2019: CNS high-grade neuroepithelial tumor with BCOR alteration. Clin Neuropathol. 2019;38:4-7.

Ferris SP, Velazquez Vega J, Aboian M, et al. High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis. Brain Pathol. 2020;30:46-62.

Appay R, Macagno N, Padovani L, et al. HGNET-BCOR Tumors of the Cerebellum: Clinicopathologic and Molecular Characterization of 3 Cases. Am J Surg Pathol. 2017;41:1254-60.

Paret C, Theruvath J, Russo A, et al. Activation of the basal cell carcinoma pathway in a patient with CNS HGNET-BCOR diagnosis: consequences for personalized targeted therapy. Oncotarget. 2016;7:83378-91.

Yoshida Y, Nobusawa S, Nakata S, et al. CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue. Brain Pathol. 2018;28:710-20.

Paret C, Russo A, Otto H, et al. Personalized therapy: CNS HGNET-BCOR responsiveness to arsenic trioxide combined with radiotherapy. Oncotarget. 2017;8:114210-25.

Kline CN, Joseph NM, Grenert JP, et al. Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy. Neuro Oncol. 2017;19:699-709.

Al-Battashi A, Al Hajri Z, Perry A, et al. A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report. Sultan Qaboos Univ Med J. 2019;19:e153-e6.

De Lima L, Surme MB, Gessi M, et al. Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)-case-based reviews. Childs Nerv Syst. 2020;36:1589-99.

Rao S, Mitra S, Sugur H, et al. Central nervous system high grade neuroepithelial tumor with BCOR immunopositivity: Is there a molecular heterogeneity? Brain Tumor Pathol. 2021;38:41-9.

Kirkman MA, Pickles JC, Fairchild AR, et al. Early Wound Site Seeding in a Patient with Central Nervous System High-Grade Neuroepithelial Tumor with BCOR Alteration. World Neurosurg. 2018;116:279-84.

Mariño-Enriquez A, Lauria A, Przybyl J, Ng TL, Kowalewska M, Debiec-Rychter M, et al. BCOR Internal Tandem Duplication in High-grade Uterine Sarcomas. Am J Surg Pathol. 2018;42(3):335-41.

Kao YC, Sung YS, Zhang L, Jungbluth AA, Huang SC, Argani P, et al. BCOR Overexpression Is a Highly Sensitive Marker in Round Cell Sarcomas With BCOR Genetic Abnormalities. Am J Surg Pathol. 2016;40(12):1670-8.

Khan MZ, Akhtar N, Hassan U, Mushtaq S. Diagnostic Utility of BCOR Antibody in Clear Cell Sarcomas of Kidney. Int J Surg Pathol. 2020;28(5):477-81.

Aldera AP, Govender D. Gene of the month: BCOR. J Clin Pathol. 2020;73:314-7.

Astolfi A, Fiore M, Melchionda F, et al. BCOR involvement in cancer. Epigenomics. 2019;11:835-55.

Kao YC, Sung YS, Zhang L, et al. Recurrent BCOR Internal Tandem Duplication and YWHAE-NUTM2B Fusions in Soft Tissue Undifferentiated Round Cell Sarcoma of Infancy: Overlapping Genetic Features With Clear Cell Sarcoma of Kidney. Am J Surg Pathol. 2016;40:1009-20.

Lewis N, Soslow RA, Delair DF, et al. ZC3H7B-BCOR high-grade endometrial stromal sarcomas: a report of 17 cases of a newly defined entity. Mod Pathol. 2018;31:674-84.

Specht K, Zhang L, Sung YS, et al. Novel BCOR-MAML3 and ZC3H7B-BCOR Gene Fusions in Undifferentiated Small Blue Round Cell Sarcomas. Am J Surg Pathol. 2016;40:433-42