Yang Ji-long, Wang Jian, Zhou Xiao-yan, Li Xiao-qiu, Hou Ying-yong, Zhu Xiong-zeng
Department of Pathology, Cancer Hospital, Fudan University, Shanghai 200032, China.
Zhonghua Bing Li Xue Za Zhi. 2006 Mar;35(3):145-50.
To study the clinicopathological and genetic features of desmoid-type fibromatosis, and to investigate the feasibility of detecting trisomy 8 in formalin fixed, paraffin embedded (FFPE) tissue by fluorescence in-situ hybridization (FISH).
A total of 96 cases were included in this study. All patients had clinical information. Histopathologic and immunohistochemical evaluations were available in 69 cases, and ultrastructural evaluation was done in 2 cases of desmoid-type fibromatosis. FFPE tissue sections were available in 20 tumors for the trisomy 8 detection by FISH.
There were 20 male and 76 female patients with ages ranging from 8 to 86 years (mean 35.3 years). Clinically, there were 44 extra-abdominal tumors, 28 abdominal wall tumors and 23 intra-abdominal lesions mostly involving the mesentery. Most cases presented with nodular or funicular masses with white firm cut surfaces, measuring 0.6 to 24.0 cm (mean 8.4 cm) in size. Histologically, desmoid-type fibromatoses showed longitudinal fascicles of spindle fibroblasts and myofibroblasts in a predominantly collagenous background. The tumor cells stained positive for vimentin, alpha-smooth muscle actin, desmin, and beta-catenin (47.8%, 33/69). Ultrastructurally, most tumor cells had features of fibroblasts, including rich endoplasmic reticulum and Golgi apparatus. Some tumor cells were myofibroblast-like cells exhibiting intercellular junctions, fibronexous junctions and stress fibers. Trisomy 8 was detected in 6 of 20 cases of desmoid-type fibromatosis including 5 of the 8 recurrent tumors but only one of the 12 primary tumors. The latter tumor also recurred three years later.
Desmoid-type fibromatosis is an intermediate (locally aggressive) tumor that occurs predominantly in young females. The lesion consists of fibroblasts and myofibroblasts with the latter showing characteristic features including stress fibers and fibronexous junctions. Trisomy 8 can be detected in FFPE tissue by FISH, and its presence serves as a useful predictor of tumor recurrence and may define a subtype of desmoid-type fibromatosis with high recurrence rate.
研究韧带样型纤维瘤病的临床病理及遗传学特征，并探讨荧光原位杂交（FISH）检测福尔马林固定、石蜡包埋（FFPE）组织中8号染色体三体的可行性。
本研究共纳入96例病例。所有患者均有临床资料。69例有组织病理学和免疫组织化学评估结果，2例韧带样型纤维瘤病进行了超微结构评估。20例肿瘤的FFPE组织切片用于FISH检测8号染色体三体。
患者中男性20例，女性76例，年龄8至86岁（平均35.3岁）。临床上，44例为腹外肿瘤，28例为腹壁肿瘤，23例为腹内病变，主要累及肠系膜。大多数病例表现为结节状或条索状肿块，切面白色、质地硬，大小为0.6至24.0 cm（平均8.4 cm）。组织学上，韧带样型纤维瘤病表现为梭形成纤维细胞和肌成纤维细胞呈纵向束状排列，主要位于胶原背景中。肿瘤细胞波形蛋白、α - 平滑肌肌动蛋白、结蛋白和β - 连环蛋白染色阳性（47.8%，33/69）。超微结构上，大多数肿瘤细胞具有成纤维细胞特征，包括丰富的内质网和高尔基体。一些肿瘤细胞为肌成纤维细胞样细胞，可见细胞间连接、纤维连接和应力纤维。20例韧带样型纤维瘤病中有6例检测到8号染色体三体，包括8例复发性肿瘤中的5例，但12例原发性肿瘤中仅1例。后1例肿瘤3年后也复发。
韧带样型纤维瘤病是一种中间型（局部侵袭性）肿瘤，主要发生于年轻女性。病变由成纤维细胞和肌成纤维细胞组成，后者具有包括应力纤维和纤维连接等特征。FISH可在FFPE组织中检测到8号染色体三体，其存在可作为肿瘤复发的有用预测指标，并可能定义一种高复发率的韧带样型纤维瘤病亚型。
