• Journal of Korean Neurosurgical Society
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• 제38권5호
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• pp.387-389
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• 2005

Primary atypical teratoid/rhabdoid tumor[AT/RT] of the central nervous system is a recently described, highly malignant neoplasm that usually occur in the posterior fossa of children. Although AT/RT usually occurs in young children, AT/RT is being recognized in adults with increasing frequency. The authors report 49-year-old man with multiple AT/RT lesions [right lateral ventricle, right temporal lobe and right cerebellum]. Histopathologic findings showed typical rhabdoid cells with eccentric nuclei and prominent nucleoli. Eventhough the tumor was removed, a patient was dead in one month after surgery due to recurrence and rapid regrowth of the tumor.

• Clinical and Experimental Pediatrics
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• 제48권2호
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• pp.228-231
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• 2005

저자들은 재태기간 36주 6일로 출생한 환아가 대천문 팽대와 활동량 감소를 보여 시행했던 방사선과적 검사에서 발견된 천막 상부에 위치한 종양에 대해 일차적으로 교모세포종으로 진단하였다가 치료 중 재발된 종양에 대해 이차 수술 후 조직검사소견과 면역조직화학검사로 비정형 기형/횡문근양 종양으로 진단한 매우 드믄 악성 뇌종양 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.333-336
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• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.