Isolated Bone Recurrence of Medulloblastoma With MYCN Amplification and TP53 Loss: A Case Report
Isolated Bone Recurrence of Medulloblastoma With MYCN Amplification and TP53 Loss: A Case Report
复制标题
伴有 MYCN 扩增和 TP53 缺失的髓母细胞瘤孤立性骨复发：一例报告
DOI：
10.1097/mph.0000000000002234
复制
发表时间：
2021
期刊：
影响因子：
--
通讯作者：
Terui Kiminori
中科院分区：
文献类型：
--
作者：
Takahashi Yuka;Kudo Ko;Ogawa Kaoru;Sato Tomohiko;Kamio Takuya;Sasaki Shinya;Kobayashi Akie;Ito Tatsuya;Yamamoto Tatsuya;Asano Kenichiro;Ohkuma Hiroki;Kurose Akira;Ito Etsuro;Terui Kiminori
髓母细胞瘤的神经外复发是罕见的，预后不佳。一个9岁的女孩髓母细胞瘤的治疗与大体全切除后化疗和放疗的组合。治疗结束14个月后，患者出现多灶性骨转移。尽管化疗与放疗相结合，但由于病情进展，她在复发后18个月死亡。福尔马林固定石蜡包埋组织切片的荧光原位杂交显示MYCN扩增和TP53缺失，与复发性髓母细胞瘤快速进展亚组的遗传改变一致。在临床实践中，可以使用荧光原位杂交技术来确定不良材料的生物学特征。
Extraneural recurrence of a medulloblastoma is rare with dismal prognosis. A 9-year-old girl with medulloblastoma was treated with gross total resection followed by a combination of chemotherapy and radiotherapy. Fourteen months after treatment completion, she developed multifocal bone metastases. Despite chemotherapy combined with irradiation, she died 18 months after recurrence due to progressive disease. Fluorescence in situ hybridization on formalin-fixed paraffin-embedded tissue sections revealed MYCN amplification and TP53 loss, consistent with the genetic alterations of a rapidly progressive subgroup of recurrent medulloblastomas. In clinical practice, dismal biologic features can be determined using fluorescence in situ hybridization in defective materials.