Pencovich Niv, Margalit Nevo, Constantini Shlomi
Department of Pediatric Neurosurgery, Dana-Dwek Children's Hospital, Tel-Aviv, Israel.
Surg Neurol Int. 2012;3:148. doi: 10.4103/2152-7806.104742. Epub 2012 Dec 14.
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by genomic instability and increased risk of various malignancies, especially osteosarcoma and squamous cell carcinoma. We report the first RTS patient who developed a central nervous system (CNS)-related neoplasm.
A 28-year-old male, previously diagnosed with RTS , developed a massive parasagital lesion, detected by magnetic resonance imaging. The tumor was surgically removed and histologically diagnosed as atypical meningioma. Preoperative symptoms were dramatically improved.
This is the first description of a CNS-related malignancy in RTS patients. Although rare, the genomic instability and additional risk factors of this syndrome should be considered in choosing the course of treatment.
罗思蒙德-汤姆森综合征（RTS）是一种罕见的常染色体隐性疾病，其特征为基因组不稳定以及患各种恶性肿瘤的风险增加，尤其是骨肉瘤和鳞状细胞癌。我们报告了首例发生中枢神经系统（CNS）相关肿瘤的RTS患者。
一名28岁男性，既往诊断为RTS，通过磁共振成像检测到一个巨大的矢状窦旁病变。该肿瘤经手术切除，组织学诊断为非典型脑膜瘤。术前症状显著改善。
这是首次对RTS患者中枢神经系统相关恶性肿瘤的描述。尽管罕见，但在选择治疗方案时应考虑该综合征的基因组不稳定及其他风险因素。
