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

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


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.

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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 2024 Jun. 21];18(2):121. Available from:
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