Teckchandani Vyomika, Chohan Shikhar, Zaheer Sufian
Department of Pathology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
Department of Pathology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
Int J Surg Case Rep. 2024 Dec;125:110586. doi: 10.1016/j.ijscr.2024.110586. Epub 2024 Nov 12.
Solitary fibrous tumors (SFTs) are rare mesenchymal neoplasms, initially described in the pleura but capable of arising in various anatomical locations, including the central nervous system. Dedifferentiation, characterized by the transformation of a low-grade tumor into a high-grade sarcoma, is an uncommon phenomenon in SFTs, especially in the intracranial region.
A 31-year-old male visited the neurology outpatient department with complaints of frequent headaches, seizures, speech difficulties, and weakness on the left side of his body. MRI was done which showed a relatively well defined T1 isointense and T2 hypointense extra-axial mass lesion in the right frontal lobe. Histopathological analysis confirmed the diagnosis of dedifferentiated SFT, marked by distinct fibroblastic differentiation and areas of high-grade sarcomatous transformation (rhabdomyosarcoma). Immunohistochemically, areas with fibroblastic differentiation showed strong and diffuse positivity for CD99, STAT6, vimentin and focal BCL-2 High-grade sarcomatous area was positive for vimentin, desmin and Myo-D1 and was negative for GFAP, EMA, PR, S-100, SMA and CD-34. It also showed focal positivity for STAT-6. The final diagnosis of intracranial solitary fibrous tumor with rhabdomyosarcomatous differentiation was made. At 2 months of follow-up, the patient is doing well.
Given the rarity of dedifferentiation in intracranial SFTs, there is limited consensus on optimal management strategies. En bloc resection remains the primary treatment approach, though the unpredictable behaviour of dedifferentiated SFTs complicates prognosis. This case underscores the importance of integrating clinical, radiological, and pathological findings for accurate diagnosis and discusses the need for further research into effective therapeutic options for dedifferentiated SFTs, particularly in challenging intracranial cases.
This case report presents a unique instance of an intracranial dedifferentiated SFT with rhabdomyosarcomatous dedifferentiation, highlighting the significant diagnostic challenges posed by this rare entity.
孤立性纤维瘤（SFTs）是一种罕见的间叶性肿瘤，最初在胸膜中被描述，但可发生于包括中枢神经系统在内的各种解剖部位。去分化，即低级别肿瘤转变为高级别肉瘤，在SFTs中是一种不常见的现象，尤其是在颅内区域。
一名31岁男性因频繁头痛、癫痫发作、言语困难及左侧身体无力就诊于神经内科门诊。进行了MRI检查，结果显示右侧额叶有一个边界相对清晰的T1等信号和T2低信号的轴外肿块病变。组织病理学分析确诊为去分化SFT，其特征为明显的成纤维细胞分化和高级别肉瘤样转化区域（横纹肌肉瘤）。免疫组化显示，成纤维细胞分化区域对CD99、STAT6、波形蛋白和局灶性BCL-2呈强阳性且弥漫性阳性。高级别肉瘤样区域对波形蛋白、结蛋白和肌分化抗原1呈阳性，对胶质纤维酸性蛋白、上皮膜抗原、孕激素受体、S-100、平滑肌肌动蛋白和CD-34呈阴性。它对STAT-6也呈局灶性阳性。最终诊断为伴有横纹肌肉瘤分化的颅内孤立性纤维瘤。随访2个月时，患者情况良好。
鉴于颅内SFTs去分化的罕见性，关于最佳治疗策略的共识有限。整块切除仍然是主要的治疗方法，尽管去分化SFTs的不可预测行为使预后复杂化。该病例强调了整合临床、影像学和病理学结果以进行准确诊断的重要性，并讨论了对去分化SFTs，特别是具有挑战性的颅内病例，进一步研究有效治疗方案的必要性。
本病例报告展示了一例伴有横纹肌肉瘤去分化的颅内去分化SFT的独特病例，突出了这种罕见实体所带来的重大诊断挑战。
