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目的研究韧带样型纤维瘤病的临床病理学和遗传学特点,探讨用荧光原位杂交的方法在石蜡包埋组织中检测8号染色体三体的可行性。方法分析96例韧带样型纤维瘤病的临床资料,对69例进行组织学形态和免疫学表型分析(免疫组织化学EnVision两步法,抗体包括波形蛋白、结蛋白、α平滑肌肌动蛋白、βcatenin、CD34、CD117、S100)、对2例行电镜观察,采用荧光原位杂交检测20例石蜡包埋组织中的8号染色体三体。结果96例病例中男20例,女76例,年龄范围8～86岁,平均35.3岁。腹部以外部位的病变44例,腹壁和盆腔的病变28例,腹腔内病变23例,其中2例与Gardner综合征伴发。病变直径在0.6～24.0cm之间,平均8.4cm,结节或者条索状肿块,质地韧,切面粗糙。显微镜下形态较一致的梭形细胞分布于大量增生的胶原纤维间质内,梭形的纤维母细胞和肌纤维母细胞常排列成束状,胞质界限不清,细胞异形性不明显。透射电镜下,纤维母细胞有丰富的粗面内质网和发达的高尔基复合体,肌纤维母细胞还可以看到应力纤维、纤维连接复合体、中间连接和缝隙连接。所有病例均表达波形蛋白,部分病例还表达结蛋白和α平滑肌肌动蛋白。βcatenin胞质和核的异位表达阳性率为47.8%(33/69)。8号染色体三体阳性率为30.0%(6/20),原发病例中8号染色体三体阳性率为1/12,显著低于复发病例的5/8。结论韧带样型纤维瘤病是主要发生于年轻女性的中间型肿瘤。它主要由纤维母细胞和肌纤维母细胞构成,而肌纤维母细胞有应力纤维、纤维连接复合体等特征性结构。可用荧光原位杂交方法在石蜡组织中检测8号染色体三体,其可能为韧带样型纤维瘤病的复发预测因子,并界定某种高复发风险亚型。
Objective To study the clinicopathological and genetic features of ligament-like fibromatosis and to explore the feasibility of detecting trisomy 8 in paraffin-embedded tissue by fluorescence in situ hybridization. Methods The clinical data of 96 cases of fibroids of the ligament type were analyzed. The histological and immunological phenotypes of 69 cases were analyzed (EnVision immunohistochemistry, including vimentin, desmin, α-smooth muscle actin, βcatenin, CD34, CD117 and S100). Electron microscopy was performed on 2 patients. Chromosome 8 in 20 paraffin-embedded tissues was detected by fluorescence in situ hybridization. Results There were 20 males and 76 females in 96 cases with an average age of 35.3 years ranging from 8 to 86 years. 44 cases of abdomen outside the lesion, abdominal wall and pelvic lesions in 28 cases, 23 cases of intra-abdominal lesions, including 2 cases with Gardner syndrome. Lesions diameter between 0.6 ~ 24.0cm, an average of 8.4cm, nodular or cord-like mass, tough texture, rough section. Filamentous cells with the same morphology under the microscope were distributed in many hyperplastic collagen fibers interspaces. Fusiform fibroblasts and myofibroblasts often arranged in bundles, with unclear cytoplasm and no obvious atypia. Under transmission electron microscopy, fibroblasts are rich in rough endoplasmic reticulum and the developed Golgi complex, and myofibroblasts can also see stress fibers, fibronectin complexes, intermediate junctions, and gap junctions. In all cases, vimentin was expressed, and some cases also expressed desmin and α-smooth muscle actin. The positive rate of ectopic expression of βcatenin in cytoplasm and nucleus was 47.8% (33/69). The positive rate of trisomy 8 chromosome was 30.0% (6/20). The positive rate of trisomy 8 chromosome was 1/12 in the primary case, which was significantly lower than that in the recurrent cases (5/8). Conclusion Ligament-type fibromatosis is an intermediate type of cancer mainly occurring in young women. It is mainly composed of fibroblasts and myofibroblasts, and myofibroblasts have stress fibers, fiber-junction complex and other features of the structure. Fluorescent in situ hybridization can be used to detect chromosome 8 trisomy in paraffin tissue, which may be a predictor of recurrence of fibroid fibroid disease in the ligament-like form and define a high-risk subtype of recurrence.