低度恶性纤维黏液样肉瘤2例临床病理分析

目的 探讨低度恶性纤维黏液样肉瘤(low-grade fibromyxoid sarcoma,LGFMS)的临床病理学特征.方法 对2例LGFMS的临床资料、病理学形态、免疫表型进行分析.结果 患者年龄分别为31、47岁,平均39岁.肿瘤均位于腹股沟,最大径分别为3.5、6 cm,境界清晰,临床完整切除.镜下肿瘤组织由纤维胶原样区和黏液样区交替组成,细胞形态比较温和,呈梭形或短梭形.2例肿瘤细胞vimentin、α-SMA(+),Ki-67(+<1%),desmin、S-100、CK、EMA、CD34均(-).2例随访至今均未见复发.结论 LGFMS是一种罕见的软组织肿瘤,具有复发和转移潜能,患者需进行长期随访.     

低度恶性纤维黏液样肉瘤3例临床病理分析

目的探讨低度恶性纤维黏液样肉瘤(low grade fibromyxoid sarcoma,LGFMS)的临床病理学特征、诊断及鉴别诊断。方法回顾性分析3例LGFMS的临床病理学特征、免疫表型等,并复习相关文献。结果3例患者均为男性,年龄48~61岁,平均51岁,临床以“无痛性软组织肿块”为首要症状,发生部位为臀部、下肢及胸壁。肿物直径较大(6.5~10 cm),均侵犯横纹肌,其中例1伴周围骨质破坏。镜下为丰富的胶原样区与黏液样区相间排列。肿瘤细胞梭形或短梭形,无明显异型性,核分裂象少见。肿瘤细胞呈短束状或涡旋状排列,间质内可见曲线形小血管。肿瘤组织中可见散在的特征性巨菊形团结构。免疫表型:肿瘤细胞MUC-4和vimentin(+),SMA少量(+),Ki-67增殖指数为10%。结论LGFMS是一种具有特殊病理形态、免疫表型及分子遗传学特征的纤维肉瘤亚型,临床过程进展缓慢,局部易复发,熟悉并掌握LGFMS的病理学特点并与其他纤维黏液性肿瘤相鉴别尤为重要。     

消化道低度恶性纤维黏液样肉瘤6例临床病理分析

目的 探讨消化道低度恶性纤维黏液样肉瘤(low-grade fibromyxoid sarcoma, LGFMS)的临床病理学特征和分子学改变。方法 回顾性分析6例消化道LGFMS的临床病理学特征、免疫表型和分子改变。采用免疫组化EnVision两步法检测蛋白表达，FISH法检测FUS基因重排情况，RNA-seq法检测FUS融合基因，并复习相关文献。结果 6例消化道LGFMS中男性4例，女性2例，患者年龄25～49岁，平均年龄和中位年龄分别为38.3岁和40岁。发生于结肠2例，胃、直肠、小肠和肠系膜各1例。5例为手术标本，肿瘤最大径2～15 cm(平均7.9 cm),1例为穿刺活检标本。低倍镜下见肿瘤多位于消化道壁内，由交替性分布的胶原性区域和黏液样区域组成，两区之间有移行。高倍镜下见瘤细胞形态一致，呈短梭形或卵圆形，核深染，染色质均匀细腻，胞质呈淡嗜伊红色。核分裂象罕见，无坏死。瘤细胞呈长束状、交织状、漩涡状或杂乱状排列。1例肿瘤内见巨菊形团结构，其中央为放射状排列的胶原纤维，周围环绕多层瘤细胞。1例含有硬化性上皮样纤维肉瘤样区域。免疫表型：6例瘤细胞均弥漫表达MUC4,1例弱表达E...     

低度恶性纤维黏液样肉瘤1例

患者女性,30岁,因左大腿上段肿物2年6个月伴局部肿胀6个月入院.肿物位于皮下深部组织,大小8 cm×6 cm×4 cm,边界较清楚,似有包膜.影像学MRI示左大腿上段分叶状软组织肿瘤,大小7.1 cm×3.8 cm×3.8 cm,T1W1示与肌肉信号相似,T2W1呈不均匀高信号,其内浑浊点状、条状信号,肿物部分边界模糊,考虑良性肿瘤,疑为韧带样纤维瘤.     

鼻低度恶性纤维粘液样肉瘤

1　临床资料患者男性,12岁,间断性鼻出血半年,渐进性鼻塞15个月,于1995年5月11日入院。查体:左下鼻道及鼻咽部见粉红色肿物,表面光滑柔软。鼻咽部ＣＴ:血管纤维瘤。行左鼻咽肿物摘除加左上颌窦根治术,见肿瘤单发有蒂,表面光滑半透明,自左上颌窦开口处垂下,未见骨质破坏。病理报告:间叶瘤,偶见核分裂象,建议彻底切除并随访。术后3月又出现鼻塞鼻出血。查体:见左鼻腔肿物充满,表面色发白。遂行左鼻侧切开肿物切除术。术中见肿物来自上颌窦内侧壁即鼻腔外侧壁,遂彻底切除肉眼下可见的病变组织。术后病理为(左鼻腔、后鼻孔、左上颌窦)间叶来源的…     

硬化性上皮样纤维肉瘤和低度恶性纤维黏液样肉瘤的临床病理学特征

目的 探讨硬化性上皮样纤维肉瘤(sclerosing epithelioid fibrosarcoma, SEF)及其密切相关的低度恶性纤维黏液样肉瘤(low-grade fibromyxoid sarcoma, LGFMS)的临床病理学特征、长期预后、免疫表型和分子表型。方法 回顾性分析11例SEF和5例LGFMS的临床病理资料，行HE及免疫组化染色，分别行FISH检测或高通量测序检测其基因改变，并复习相关文献。结果 11例SEF肿瘤细胞呈圆形、卵圆形，细胞形态较为一致，间质可见大量深嗜伊红色的胶原纤维，部分区域细胞稀疏，肿瘤细胞呈条索状或单个夹杂在硬化性间质中，其中1例为杂合性SEF/LGFMS;5例LGFMS镜下由稀疏区和致密区构成，稀疏区间质呈黏液样，可见大量弓形血管，致密区细胞外胶原丰富，两种区域掺杂或交替分布；免疫表型：SEF和LGFMS中MUC4和vimentin均阳性；分子检测显示单纯SEF中90%(9/10)发生EWSR1基因断裂分离，10%(1/10)发生FUS基因断裂分离；1例杂合性SEF/LGFMS伴有FUS-CREB3L2基因融合；LGFMS中均检测到FUS基...     

鼻咽低度恶性纤维黏液样肉瘤2例报道并文献复习

目的探讨鼻咽低度恶性纤维黏液样肉瘤(Low-gradefibromyxoid sarcoma,LGFMS)的临床病理特征、免疫组化、诊断、鉴别诊断和预后。方法对2例鼻咽LGFMS进行组织学和免疫组化观察并结合文献复习进行分析。结果 2例均为女性,年龄分别为39岁和40岁。CT检查鼻咽部占位性病变。镜下肿瘤由纤维区和黏液样区混合组成,二者呈交错相间排列;纤维性区瘤细胞排列呈旋涡状;黏液样区瘤细胞散在分布;细胞核轻度异型。PAS染色黏液样间质区和肿瘤细胞均为阴性。免疫组化标记vimentin、CD34阳性。随访无复发。结论鼻咽LGFMS少见,是一种来源于纤维母细胞、进展缓慢的低度恶性软组织肉瘤,易误诊为良性。生物学行为属于低度恶性肿瘤。病理诊断依赖于组织化学和免疫组化检查。     

纵隔低级别纤维黏液样肉瘤1例临床病理特征并文献复习

目的 探讨纵隔低级别纤维黏液样肉瘤(low-grade fibromyxoid sarcoma, LGFMS)的临床病理特征、诊断、鉴别诊断。方法 收集1例纵隔LGFMS临床资料，对其临床表现、影像学特点、组织学特征、免疫表型、FUS基因检测及预后进行分析，并复习相关文献。结果 肿瘤细胞呈短束状、交织状或漩涡状排列，细胞核呈圆形、卵圆形，核仁不明显，异型性不明显，部分区域可见不同程度的黏液样变，其间可见小分支样血管。免疫表型：vimentin、MUC4均阳性。FISH检测显示FUS基因断裂。结论 发生在纵隔部位的LGFMS临床较为罕见，免疫组化标记MUC4联合FISH检测有助于LGFMS的诊断。     

低度恶性纤维黏液样肉瘤:18例临床病理分析包括组织学上与硬化性上皮样纤维肉瘤的关系

作者报道了18例低度恶性纤维黏液样肉瘤(LGFMS),此瘤是一种具有多种组织学特征的罕见肿瘤,有关该肿瘤少见的组织学特征以及与硬化性上皮样纤维肉瘤(SEF)的关系还不清楚。18例LGFMS中男性9名,女性9名(男女比例为1∶1),年龄10～69岁,平均32.5岁。     

Low-grade fibromyxoid sarcoma versus low-grade myxofibrosarcoma in the extremities and trunk. A comparison of clinicopathological and immunohistochemical features

AIMS: Low-grade fibromyxoid sarcoma (LGFMS) is a distinctive variant of fibrosarcoma and has been reported to have metastatic potential despite its low-grade histological findings. Low-grade myxofibrosarcoma (MFS) is an important differential diagnosis of LGMFS, because it shows different biological behaviour. Of 75 MFSs in the extremities and trunk, we defined 22 grade 1 tumours as low-grade MFS according to the French Federation of Cancer Centres grading system and compared the clinicopathological factors and immunohistochemical expression of cell cycle regulators with those of 11 LGFMSs. METHODS AND RESULTS: The two entities could be distinguished on histological grounds. Low-grade MFS was characterized by the presence of prominent elongated, curvilinear capillaries and pseudolipoblasts, accompanied by an abundant myxoid matrix. It had no extensive solid areas. LGFMS was composed of bland spindle cells arranged in a whorled pattern with alternating myxoid and fibrous stroma. Curvilinear capillaries were not prominent and cytological atypia was absent. No tumour necrosis was observed in any of the 11 LGFMSs, whereas only one case showed tumour necrosis in less than 50% of the tumour in 22 low-grade MFSs. The patients with low-grade MFS were significantly older than those with LGFMS (low-grade MFS average, 60.1 years; LGFMS average, 31.5 years; P < 0.0001) and low-grade MFS occurred more frequently in a superficial location (low-grade MFS 14/20; LGFMS 2/11; P = 0.0077). As for cell cycle regulator expression, the MIB-1 labelling index (LI) (14.76 on average) and cyclin E LI (11.55 on average) in low-grade MFS were significantly higher than those (MIB-1 LI, 4.68 on average; cyclin E LI, 3.38 on average) of LGFMS, while p21 LI (25.53 on average) and p27 LI (42.68 on average) in low-grade MFS were significantly lower than those (p21 LI, 42.74 on average; p27 LI, 57.28 on average) of LGFMS. CONCLUSIONS: We conclude that low-grade MFS and LGFMS are distinctly different clinicopathological entities and the assessment of the immunohistochemical expression of MIB-1, cyclin E, p21 and p27 as well as conventional clinicopathological features may be helpful to distinguish low-grade MFS from LGFMS.     

Low-grade fibromyxoid sarcoma arising in the big toe

Low-grade fibromyxoid sarcoma (LGFMS) is a rare tumor. Reported herein is a case of LGFMS arising in the big toe. The patient was a 58-year-old man who underwent excision of the tumor. The tumor was well-demarcated. Histologically, there were proliferating spindle-shaped tumor cells arranged in a whorled growth pattern, and the stroma showed hyalinized collagen bundles and a myxoid matrix. Nuclear mitotic figures were conspicuous in part. A large rosette-like structure with hyalinized stroma was found, which is characteristic of LGFMS. The differential diagnosis included tumor occurrence in adults; tending to arise in distal extremities; and having bland fibromyxoid histological features, such as fibroma of tendon sheath, low-grade myxofibrosarcoma and acral myxoinflammatory fibroblastic sarcoma. It was not possible to detect the FUS/CREB3L2 and FUS/CREB3L1 fusion genes from the formalin-fixed and paraffin-embedded tissue, although the histological features of the present case were typical of LGFMS. LGFMS may become more common with time, and unique cases may accumulate.     

Primary intrathoracic low-grade fibromyxoid sarcoma

Low-grade fibromyxoid sarcoma (LGFMS) is a rare neoplasm commonly affecting young adults and typically arising in the somatic soft tissue of the proximal extremities. Its occurrence within the thoracic cavity is exceedingly rare. We report an LGFMS arising from the epicardial surface of the right side of the heart in a 44-year-old woman. Diagnosis was aided by a strikingly characteristic light microscopic appearance of a bland spindle cell sarcoma containing numerous so-called giant collagen rosettes and supported by immunohistology, evidence of FUS translocation by fluorescence in situ hybridization, and electron microscopy demonstrating a fibroblastic phenotype. Aspiration cytology showed a nonspecific bland spindle cell lesion. Review of the literature uncovered 5 previously reported examples of intrathoracic LGFMS. Low-grade fibromyxoid sarcoma is probably an underrecognized intrathoracic neoplasm and should be considered in the differential diagnosis of spindle cell neoplasms of the mediastinum, pleura, heart, and lungs.     

Claudin-1 is expressed in perineurioma-like low-grade fibromyxoid sarcoma

Low-grade fibromyxoid sarcoma is a soft tissue sarcoma with recurrent and low metastatic potential, which has characteristic FUS-CREB3L2 or FUS-CREB3L1 fusions. Perineurioma is a peripheral nerve sheath neoplasm, which is usually benign. Low-grade fibromyxoid sarcoma and perineurioma can appear morphologically similar, particularly in small biopsy specimens, and distinction between the 2 entities is important for appropriate treatment. Low-grade fibromyxoid sarcoma is negative for most immunohistochemical markers, whereas perineuriomas stain variably for epithelial membrane antigen, CD34 and claudin-1, a tight-junction associated protein. We studied 15 cases of genetically proven low-grade fibromyxoid sarcoma that at least focally resembled perineurioma, with antibodies to claudin-1 and epithelial membrane antigen. Of these, 11 showed positivity for epithelial membrane antigen and all 15 were positive for claudin-1; in all cases, expression of claudin-1 was equal to or greater than the corresponding epithelial membrane antigen expression. This study emphasizes that claudin-1 is significantly expressed in low-grade fibromyxoid sarcomas. This has implications toward the accurate diagnosis of both tumors, and, as positivity for claudin-1 in low-grade fibromyxoid sarcoma is not previously documented, suggests that there might be underdiagnosis of low-grade fibromyxoid sarcoma. Although positivity for claudin-1 remains useful as an adjunct marker for perineurioma, it should be taken in context with clinical findings, morphology, and the additional immunoprofile.     

Low‐grade fibromyxoid sarcoma versus fibromatosis: A comparative study of clinicopathological and immunohistochemical features

We have studied 11 cases of low‐grade fibromyxoid sarcoma (LGFMS) and 15 cases of fibromatosis with respect to clinicopathological features and immunohistochemical expression of Ki‐67, nm23, cyclinD1, and p53, in order to investigate the differential diagnosis between this two groups. Formalin‐fixed, paraffin‐embedded sections from 11 cases of LGFMS and 15 cases of fibromatosis were studied histologically and immunohistochemically. The immunostainings were semiquantitatively evaluated using the Allred score system. Microscopically, LGFMS was composed of bland spindle cells arranged in a whorled pattern showing alternating myxoid zones and fibrous stroma zones with prominent arcade curvilinear capillaries. Cytological atypia, mitotic figures, and tumor necrosis were absent in all 11 cases of LGFMS. In contrast, fibromatosis was less cellular and more fascicular, containing more collagen and showing no alternating fibrous and myxoid zones as compared with LGFMS. The immunostaining scores of nm23 in LGFMS were significantly lower than that in fibromatosis. The immunostaining scores of Ki‐67, p53, and cyclinD1 in LGFMS were significantly higher than that in fibromatosis. Thus, we consider that LGFMS can be distinguished from fibromatosis by clinicopathological features, and assessments of the immunohistochemical expression level of cyclinD1, p53, nm23, and Ki‐67 are helpful in the differential diagnosis. Diagn. Cytopathol. 2009. © 2008 Wiley‐Liss, Inc.     

Low grade fibromyxoid sarcoma: clinicopathological analysis of eleven new cases in support of a distinct entity

Low grade fibromyxoid sarcoma is a recently recognized, uncommon soft tissue neoplasm with a tendency to develop in deep soft tissue of young adults. Diagnostic criteria have not been well defined and this tumour has not been widely accepted as a distinct entity. Eleven new cases are reported here for which reproducible histological features are described and in which the immunohistochemical profile of the tumour cells is documented for the first time. Ten of the eleven patients were male and the majority were young or middle-aged adults (median age 45 years). All except one of the tumours were situated in deep soft tissue. Lower limb (four cases) and chest wall (three cases) were the commonest primary sites; one case each arose in the groin, buttock, axilla and retroperitoneum. Follow-up (median duration 6 years) was available in nine patients. Six developed local recurrence and in five cases recurrences were multiple. Pulmonary metastasis occurred in one patient. All tumours were characterized by the presence of bland spindle cells, showing a mainly whorled or focally linear arrangement, set in alternating areas with a fibrous or myxoid stroma. Tumour cells were small, spindle to stellate, with poorly defined, palely eosinophilic cytoplasm and hyperchromatic ovoid nuclei. Most tumour cells showed strong staining with antibodies to vimentin, while occasional cells stained positively for actin, desmin and cytokeratin, in keeping with focal myofibroblastic differentiation. Ultrastructural examination in one case revealed features of fibroblasts. Careful consideration of the morphological and immunohistochemical features of these tumours permits a positive diagnosis of low grade fibromyxoid sarcoma and allows its distinction from a number of other benign and malignant soft tissue neoplasms.     

腹腔上皮样炎性肌纤维母细胞肉瘤临床病理分析并文献复习

目的：通过对上皮样炎性肌纤维母细胞肉瘤(epithelioid inflammatory myofibroblastic sarcoma, EIMS)的临床病理学特征的分析,提高对其诊断认识能力,减少误诊。方法：分析3例EIMS的临床病理特征并复习相关文献。结果：术后镜下示：肿瘤细胞弥漫分布,呈圆形、上皮样,胞浆丰富、嗜酸性、核偏位,核仁明显,部分可见梭形细胞,背景显著黏液变性伴突出的炎症细胞浸润,以中性粒细胞为主。免疫表型：肿瘤细胞表达ALK、Desmin、CD30、EMA、INI-1;部分表达：CK和SMA;不表达LCA、CD15、MyoD1、S-100、HMB-45、CD20、CD3、CD34、CD117和DOG-1。FISH检测显示3例均有ALK基因相关易位。结论：EIMS是高度恶性肿瘤,发生率比较低,细胞学形态特征、免疫组织化学特点及分子特征对本病的诊断具有重要价值。     

A huge low-grade fibromyxoid sarcoma of small bowel mesentery simulating hyper immune splenomegaly syndrome: a case report and review of literature

Introduction

Low-grade fibromyxoid sarcoma (LGFMS) is a rare non epithelial tumour. It usually arises from the smooth muscles of the extremities. It is, however, occasionally reported to arise from other regions of the body.

Case report

We report the case of a 32 year old man who complained of a progressive abdominal swelling of 4 months duration. There was associated abdominal discomfort and weight loss. Abdominal examination revealed a non-tender intra abdominal mass filling the abdomen completely. Abdominal ultrasound suggested a massive splenomegaly. Abdomina Computerized Tomography (CT) scan was not done due to financial constraints. At laparotomy, a large, pearl-coloured mass was found within the mesentery of the proximal jejunum, with dilated, tortuous vessels. It was resected along with the overlying 60cm of jejunum. It weighed 7.5kg. Histology and immunohistochemistry confirmed the diagnosis of lowgrade fibromyxoid sarcoma. Post-operative period was uneventful and there were no features of recurrent after 2 year of follow up.

Conclusion

LGFMS may cause a diagnostic dilemma, especially in a third world setting where preoperative diagnosis is hampered by lack of facilities and poverty. A high index of suspicion is needed for preoperative diagnosis, which is necessary for proper planning of the operation.     

Low-grade fibromyxoid sarcoma with prominent giant rosettes and heterotopic ossification

Low-grade fibromyxoid sarcoma is a rare soft tissue sarcoma of fibroblastic differentiation characterized by a deceptively benign morphologic appearance with almost consistent MUC4 expression and recurrent chromosomal translocations, t(7;16)(q34;p11) and t(11;16)(p11;p11), resulting in the FUS-CREB3L2 and FUS-CREB3L1 fusion genes, respectively. A subset of the tumors show peculiar histologic features, designated as giant rosettes, and were formerly referred to as hyalinizing spindle cell tumor with giant rosettes. We herein report a case of low-grade fibromyxoid sarcoma showing the presence of numerous giant rosettes, with and without collagenous centers, distributed throughout the lesion and unusual rim-like heterotopic ossification. Such a case might present a diagnostic challenge. The diagnosis of the tumor was confirmed by positive immunoreactivity to MUC4 and the FUS-CREB3L2 fusion detected by molecular testing using formalin-fixed, paraffin-embedded tissue. This case, which has such unusual clinicopathologic features, would help to further expand our knowledge regarding the morphologic diversities of low-grade fibromyxoid sarcoma.