Ponmar Madhurima, T Badrinath, A Ramachandran, Kurian Jujju Jacob, Gaikwad Pranay, Thomas Binu P, K Madhavi, Prabhu Anne Jennifer
Departments of General Pathology, Christian Medical College, Vellore, Tamil Nadu India.
Department of General Pathology, Christian Medical College, Vellore, India.
Indian J Surg Oncol. 2025 Feb;16(1):19-30. doi: 10.1007/s13193-024-02016-7. Epub 2024 Jul 11.
Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor, common in children and young adults, often misdiagnosed as either reactive or malignant. This study aims to highlight the clinico-radiological and pathological features of this uncommon entity. Eighteen cases of AFH diagnosed over a period of 20 years were analyzed and correlated with clinical data. The tumor had a wide age distribution with an M:F ratio of 3.5:1. Though swelling was the common clinical presentation, a subset of patients had constitutional symptoms like fever, weight loss, loss of appetite, and anemia. One patient was referred with deranged aPTT and hypergammaglobulinemia. The radiological features were also myriad ranging from infection in a discharging soft tissue swelling to lymphoma (in cases with nodal involvement) to sarcoma (angiosarcoma and telangiectatic osteosarcoma). Sites of occurrence were soft tissue of the upper limb, lower limb, head and neck, bone, and lung. Intra-operatively, these tumors run the risk of bleeding and may require pre-op embolization and support by blood and blood products. Wide local excision was the primary treatment offered. Macroscopically, the average size was 3.5 cm; the cut surface was nodular, cystic with hemorrhage, and gray-white to brownish-yellow in color. Microscopically, the tumors were circumscribed with a fibrous pseudo-capsule and showed mildly pleomorphic spindle cells insheets and fascicles, in a sclerotic to myxoid stroma. A peripheral cuff of lymphoplasmacytic cells was present in all cases. Atypical histological features observed were moderate nuclear pleomorphism, frequent mitosis, solid variant, and myxoid stroma. Immunohistochemically, they were most often positive for desmin, CD68, and EMA. Interestingly, about 55.5% cases had lymphadenopathy of which three showed metastatic tumor. Three of our cases harbored EWSR1 re-arrangement, proven by FISH. Follow up details were available for six patients and none showed recurrence. In conclusion, we emphasize the importance of improved recognition of this rare yet morphologically distinct neoplasm, with varied clinico-radiological presentation.
血管样纤维组织细胞瘤（AFH）是一种罕见的软组织肿瘤，常见于儿童和年轻人，常被误诊为反应性或恶性肿瘤。本研究旨在突出这种不常见实体的临床放射学和病理学特征。分析了20年间诊断的18例AFH病例，并将其与临床数据相关联。肿瘤的年龄分布广泛，男女比例为3.5:1。虽然肿胀是常见的临床表现，但一部分患者有发热、体重减轻、食欲不振和贫血等全身症状。一名患者因活化部分凝血活酶时间（aPTT）异常和高球蛋白血症前来就诊。放射学特征也多种多样，从有分泌物的软组织肿胀伴感染到淋巴瘤（伴有淋巴结受累的病例）再到肉瘤（血管肉瘤和毛细血管扩张性骨肉瘤）。发生部位包括上肢、下肢、头颈部的软组织、骨骼和肺部。术中，这些肿瘤有出血风险，可能需要术前栓塞，并需要血液及血液制品支持。主要治疗方法是广泛局部切除。宏观上，平均大小为3.5厘米；切面呈结节状，囊性伴出血，颜色从灰白色到棕黄色。微观上，肿瘤有纤维假包膜，边界清晰，显示轻度多形性梭形细胞呈片状和束状排列，存在于硬化至黏液样基质中。所有病例均有外周淋巴细胞浆细胞袖套。观察到的非典型组织学特征为中度核多形性、频繁有丝分裂、实性变体和黏液样基质。免疫组化方面，它们最常对结蛋白、CD68和上皮膜抗原（EMA）呈阳性。有趣的是，约55.5%的病例有淋巴结病，其中3例显示转移性肿瘤。我们的3例病例通过荧光原位杂交（FISH）证实存在EWSR1重排。有6例患者的随访细节可查，均未显示复发。总之，我们强调提高对这种罕见但形态学上独特的肿瘤的认识的重要性，其临床放射学表现多样。
