Nery Breno, de Alencar Neto Joaquim Fechine, Melo Layssa Rhossana Dos Santos, Costa Rodrigo Antônio Fernandes, Quaggio Eduardo, de Medeiros Luísa Segato, de Sousa Segundo José Alencar, de Lima Nicolle Fortuny, Rivero Renan Lopez
Department of Neurosurgery, Beneficência Portuguesa Ribeirão Preto, Ribeirão Preto, Brazil.
Surg Neurol Int. 2023 Jul 7;14:231. doi: 10.25259/SNI_338_2023. eCollection 2023.
Soft-tissue sarcomas are a rare and diverse group of neoplastic lesions. They represent only 1% of malignant tumors in adults and 15% in children. Synovial sarcoma (SS) is a type of soft-tissue sarcoma, accounting for 5-10% of cases, and commonly affecting extremities. Diagnosis, treatment, and prognosis remain challenging especially when localized in uncommon areas, such as intracranial lesions.
A 13-year-old male patient with a clinical history of neurofibromatosis Type I (NF1) presenting holocranial headache with jet vomiting and apathy 2 days before admission, without neurological deficits and/or focal findings. On magnetic resonance imaging: an extra-axial infiltrative lesion with contrast uptake at the base of the skull in the olfactory groove topography. After total tumor resection, the anatomopathological examination showed monophasic SS. The patient returned after 6 months with similar symptoms, and the lesion recurred and was reoperated. Unfortunately, 7 months after the second surgery, the patient died.
SS can occur extraarticulously and with a variable clinical presentation and poor prognosis despite adjuvant therapies with radiotherapy and chemotherapy. In individuals with clinical history of NF1, there is still no direct correlation between the two manifestations, although current descriptions are suggestive of a possible interaction.
软组织肉瘤是一组罕见且多样的肿瘤性病变。它们在成人恶性肿瘤中仅占1%，在儿童中占15%。滑膜肉瘤（SS）是软组织肉瘤的一种类型，占病例的5 - 10%，常见于四肢。诊断、治疗和预后仍然具有挑战性，尤其是当病变位于不常见的部位，如颅内病变时。
一名13岁男性患者，有I型神经纤维瘤病（NF1）病史，入院前2天出现全颅头痛、喷射性呕吐和淡漠，无神经功能缺损和/或局灶性体征。磁共振成像显示：在嗅沟部位的颅底有一个轴外浸润性病变，有造影剂摄取。肿瘤全切术后，病理检查显示为单相滑膜肉瘤。患者6个月后因类似症状复诊，病变复发并再次手术。不幸的是，第二次手术后7个月，患者死亡。
滑膜肉瘤可发生于关节外，临床表现多样，尽管采用放疗和化疗等辅助治疗，预后仍较差。在有NF1病史者中，两者之间尚无直接关联，但目前的描述提示可能存在相互作用。
