横纹肌样瘤酷似卵黄囊瘤 1 例报告
A case of malignant rhabdoid tumor mimicking yolk sac tumor.
机构信息
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Department of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.
出版信息
Pediatr Blood Cancer. 2019 Aug;66(8):e27784. doi: 10.1002/pbc.27784. Epub 2019 Apr 29.
Malignant rhabdoid tumors (MRTs) are rare, highly aggressive embryonal neoplasms caused by biallelic alterations of the SMARCB1 gene. MRTs may occur in any soft tissue, but extracranial extrarenal MRTs are extremely rare. Diagnosis of MRTs in unusual locations and with an uncharacteristic cytomorphology that mimics other tumors is difficult. This was an atypical case of MRT in a 15-year-old female with tumors that closely resembled yolk sac tumors. It was extremely challenging to diagnose the tumors without confirming the SMARCB1 status.
恶性横纹肌样瘤（MRTs）是一种罕见的、高度侵袭性的胚胎性肿瘤，由 SMARCB1 基因的双等位基因突变引起。MRTs 可发生于任何软组织中，但颅外肾外 MRTs 极为罕见。在不常见的部位和具有模仿其他肿瘤的非典型细胞形态学的情况下，MRTs 的诊断较为困难。这是一例 15 岁女性的不典型 MRT 病例，其肿瘤与卵黄囊瘤非常相似。在未确认 SMARCB1 状态的情况下，诊断这些肿瘤极具挑战性。
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