School of Medicine, 14434University of Utah, Salt Lake City, UT, USA.
Department of Pathology, 14434University of Utah, Salt Lake City, UT, USA.
Neuroradiol J. 2023 Feb;36(1):104-107. doi: 10.1177/19714009221098368. Epub 2022 May 9.
Extrarenal malignant rhabdoid tumors are rare, aggressive lesions that primarily affect infants and children with characteristic SMARCB1/INI1 mutations. While rhabdoid tumors are most commonly found in the kidneys and central nervous system, they have been reported in virtually every soft tissue in the body. A 20-year-old previously healthy male presented with a 4-month history of left upper extremity weakness and pain and a 1-week history of lower extremity weakness. MRI showed a combined intradural and extradural mass arising from the C8 root and involving the lower trunk of the brachial plexus. CT guided biopsy followed with onsite cytologic analysis initially concerning for plasma cell etiology. Full body PET/CT showed no evidence of metastases. The tumor was surgically resected and debulked. Extensive immunohistochemical testing on the resected specimen revealed a diagnosis of extrarenal malignant rhabdoid tumor. Recurrence invading paraspinous muscles, left lateral paravertebral space, left apical lung, and brachial plexus was noted within 2 months. Radiation and chemotherapy were initiated. Here we present imaging findings, image-guided biopsy, surgical management, and pathologic diagnosis of a rare case of extrarenal, extracranial malignant rhabdoid tumor of the brachial plexus and surrounding paraspinous muscles in a young adult male.
肾脏外恶性横纹肌样瘤是一种罕见的侵袭性病变,主要影响婴儿和儿童,具有特征性的 SMARCB1/INI1 突变。虽然横纹肌样瘤最常见于肾脏和中枢神经系统,但它们几乎可以发生在身体的每一个软组织部位。一名 20 岁的既往健康男性,因左上肢无力和疼痛 4 个月,下肢无力 1 周就诊。MRI 显示起源于 C8 神经根并累及臂丛下干的颅内外混合肿块。CT 引导下活检随后进行现场细胞学分析,最初考虑浆细胞瘤病因。全身 PET/CT 未显示转移证据。肿瘤被手术切除和减瘤。切除标本的广泛免疫组织化学检测显示肾脏外恶性横纹肌样瘤的诊断。术后 2 个月内发现肿瘤复发,侵犯椎旁肌、左侧侧方椎旁间隙、左肺尖和臂丛。开始进行放疗和化疗。在此,我们展示了一例罕见的青年男性臂丛及其周围椎旁肌肉肾脏外、颅外恶性横纹肌样瘤的影像学表现、影像引导下活检、手术处理和病理诊断。