Poorly Differentiated Chordoma of the Clivus With Loss of SMARCB1 Expression in a Pediatric Patient: A Case Report
Poorly Differentiated Chordoma of the Clivus With Loss of SMARCB1 Expression in a Pediatric Patient: A Case Report
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儿科患者低分化斜坡脊索瘤伴 SMARCB1 表达缺失：一例病例报告
DOI：
10.1097/mph.0000000000002402
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Ohnishi Hidenori
中科院分区：
文献类型：
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作者：
Yasue Shiho;Ozeki Michio;Endo Saori;Kanayama Tomohiro;Suzui Natsuko;Nakamura Sayaka;Kishimoto Kenji;Kosaka Yoshiyuki;Miyazaki Tatsuhiko;Demizu Yusuke;Soejima Toshinori;Kawamura Atsufumi;Ohnishi Hidenori
低分化脉络膜炎（PDC）是一种罕见的侵袭性脉络膜炎。一个两岁的女孩，颈部疼痛，四肢瘫痪和呼吸衰竭。磁共振成像和正电子发射断层扫描-计算机断层扫描显示一个肿瘤压迫脑桥在斜坡和成骨细胞转移性病变的左上臂和右髂骨。经过化疗和质子束治疗后，她的肿瘤大幅缩小。我们最初的诊断是一个不典型的畸胎瘤/横纹肌样瘤，但PDC的最终诊断是基于免疫组化表达的短尾。此外，SMARCB 1/INI 1突变的检测证实了PDC的诊断。
Poorly differentiated chordoma (PDC) is a rare, aggressive subtype of chordoma. A two-year-old girl presented with cervical pain, limb paralysis and respiratory failure. Magnetic resonance imaging and positron emission tomography-computed tomography revealed a tumor compressing the pons at the clivus and osteoblastic metastatic lesions of the left upper arm and right iliac bone. Her tumors shrank substantially after treatment with chemotherapy and proton beam therapy. Our initial diagnosis was an atypical teratoma/rhabdoid tumor, but final diagnosis of PDC was made on the basis of the immunohistochemical expression of brachyury. In addition, the detection of SMARCB1/INI1 mutation confirmed the diagnosis of PDC.