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Case No. 694
2024-08-01~2024-08-31
출제자 : 황인평
Hit : 436
| Period | 2024-08-01~2024-08-31 |
|---|---|
| Diagnosis | spinal ependymoma |
| Gender |
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| Age | 67 |
| Clinical information | 3개월 전부터 악화되는 복시 및 딸꾹질로 내원한 67세 남자입니다. 진단은 무엇일까요? |
| Discussion | spinal ependymoma 2021 WHO Classifications of CNS tumors: Ependymal tumors - Supratentorial ependymoma, ZFTA fusion-positive - Supratentorial ependymoma, YAP1 fusion-positive - Supratentorial ependymoma, NEC/NOS - Posterior fossa ependymoma, group PF-A: EZHIP mutations, H3 p.K28M(K27M) mutations, Chr 1q gain or 1q loss - Posterior fossa ependymoma, group PF-B: chromosomal instability - Posterior fossa ependymoma, NEC/NOS - Spinal ependymoma: NF2 mutations, Chr22q loss - Spinal ependymoma, MYCN-amplified - Myxopapillary ependymoma: chromosomal instability - Subependymoma: TERT mutations, loss of chromosome 6. Medulla에 위치한 tumor genetics상 chromosome 6p/22q deletion 및 NF2 loss가 있었던 spinal ependymoma 증례. Reference Kresbach C, et al. Brain Pathol. 2022;32(4):e13068. |
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