髋骨肿瘤-上海市骨与软组织读片2003(2)上交大附属市六院提供

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性别	男	年龄	49	临床诊断	右髋骨占位
一般病史	发现右髋骨占位性病变一周入院，行右髋骨肿瘤切开活检。
标本名称	右髋骨肿瘤活检组织
大体所见	灰红色组织，大小4X3X2cm，质地较软。

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标签：骨肿瘤罕见

本帖最后由海上明月于 2013-08-15 22:44:26 编辑

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: 王军臣

Abstract

EWSR1-CREB1 and EWSR1-ATF1 are gene fusions of which one or both have now been consistently described in 5 histopathologically and behaviorally diverse neoplasms: angiomatoid fibrous histiocytoma, conventional clear cell sarcoma (of tendons and aponeuroses), clear cell sarcoma-like tumor of the gastrointestinal tract, hyalinizing clear cell carcinoma of the salivary gland, and primary pulmonary myxoid sarcoma. Some of the tumors in this group have been described only recently, and others have been the subject of recent genetic insights contributing to their characterization. These neoplasms are all rare; yet, the increasing frequency with which EWSR1-CREB1 and EWSR1-ATF1 fusions are being described in separate entities is noteworthy. The additional molecular mechanisms by which tumors with such variable morphologic, immunohistochemical, and clinical phenotypes are generated are yet to be understood. We review the clinicopathologic and molecular features of this group of neoplasms unified by the presence of EWSR1-CREB1 and EWSR1-ATF1 genetic fusions.

3. Chen G, Folpe AL, Colby TV, Sittampalam K, Patey M, Chen MG, Chan JK. Angiomatoid fibrous histiocytoma: unusual sites and unusual morphology. Mod Pathol. 2011 Dec;24(12):1560-70.

AFH是发生在软组织的低度恶性潜能（即中间型或称为交界性）肿瘤，科发生在机体不同部位，但多是在浅表的软组织中。虽然青少年多发，但本文统计发病的中位年龄为48岁。

AFH的形态学上，肿瘤细胞呈树突样，呈多结节状集结生长；肿瘤外层可见淋巴细胞浸润带；具有含血腔隙结构（注：不一定都是血管，有CD34标记不含内皮的含血的血管样腔隙）；间有较多的浆细胞。除这些典型的形态学表现外，在少数病例有不常见的形态学表现，偶见瘤细胞胞浆透明、横纹肌肌母细胞样细胞、局灶呈肺水肿样观。

免疫组化标记EMA、desmin、SMA、CD68 和CD99 的阳性率分别为100%、63%、43%、100%和100%

Abstract

Angiomatoid fibrous histiocytoma is a soft tissue neoplasm of low malignant potential, typically occurring in the superficial soft tissues of the extremities in children and young adults. Occurrence outside somatic soft tissues is most uncommon. This report describes eight such cases, involving the lung (three cases), mediastinum (one case), vulva (two cases), retroperitoneum (one case) and ovary (one case), with the latter three locations being hitherto unreported sites of occurrence. Patients had a median age of 48 years, and presented with symptoms related to the mass lesion (five cases) or were incidentally found to harbor a tumor (three cases). Besides the typical histological features such as an outer shell of lymphoid tissue, multinodular aggregates of dendritic-like tumor cells, blood-filled spaces and abundant admixed plasma cells, unusual features were found focally in some cases, including clear cells, rhabdomyoblast-like cells, pulmonary edema-like pattern and tumor cell cords lying in a myxoid stroma. Immunoreactivity for the epithelial membrane antigen, desmin, smooth-muscle actin, CD68 and CD99 was found in 100, 63, 43, 100 and 100% of cases, respectively. Molecular studies provided support for the diagnosis in all seven tested cases-EWS gene translocation in six cases (partner gene being CREB1 in three and ATF1 in two in which information was available) and FUS gene translocation in one case. Comparison of the reported cases of extrasomatic angiomatoid fibrous histiocytoma with their somatic soft tissue counterparts showed a number of differences: higher mean age, slight male predominance (particularly for bone lesions), larger tumors, higher frequency of systemic symptoms, higher recurrence rate, myxoid change being more common and a much higher frequency of EWS/ATF1 gene fusion.

请参阅国外文献：

Metastatic angiomatoid fibrous histiocytoma of the scalp, with EWSR1-CREB1 gene fusions in primary tumor and nodal metastasis. Hum Pathol. 2013 Feb;44(2):289-93.

血管瘤样纤维组织细胞瘤（Angiomatoid fibrous histiocytoma，AFH）生物学行为属于中间型的肿瘤，多发生于青少年。其转移率不足5%；

Abstract

Angiomatoid fibrous histiocytoma is a rare soft tissue tumor of intermediate biologic potential, predominantly arising in superficial extremities of children and young adults. Less than 5% metastasize. We describe a case of angiomatoid fibrous histiocytoma in the scalp of an 8-year-old boy, which metastasized to a postauricular lymph node 3 years after primary tumor excision. Histologically, primary and metastasis comprised nodules of bland ovoid cells, with primary additionally showing hemorrhagic cavities, fibrous capsule, and lymphoplasmacytic inflammation. Both strongly expressed desmin, with focal epithelial membrane antigen. Reverse transcription-polymerase chain reaction showed EWSR1-CREB1 fusion transcripts in both primary and metastasis. This is, to our knowledge, the first description of genetically proven metastatic angiomatoid fibrous histiocytoma. Angiomatoid fibrous histiocytoma can mimic both benign and malignant lesions, and although most behave indolently, it is important to recognize their metastatic potential.

2. Thway K, Fisher C.Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status. Am J Surg Pathol. 2012 Jul;36(7):e1-e11.

AFH显示的分子遗传学改变

Abstract

EWSR1-CREB1 and EWSR1-ATF1 are gene fusions of which one or both have now been consistently described in 5 histopathologically and behaviorally diverse neoplasms: angiomatoid fibrous histiocytoma, conventional clear cell sarcoma (of tendons and aponeuroses), clear cell sarcoma-like tumor of the gastrointestinal tract, hyalinizing clear cell carcinoma of the salivary gland, and primary pulmonary myxoid sarcoma. Some of the tumors in this group have been described only recently, and others have been the subject of recent genetic insights contributing to their characterization. These neoplasms are all rare; yet, the increasing frequency with which EWSR1-CREB1 and EWSR1-ATF1 fusions are being described in separate entities is noteworthy. The additional molecular mechanisms by which tumors with such variable morphologic, immunohistochemical, and clinical phenotypes are generated are yet to be understood. We review the clinicopathologic and molecular features of this group of neoplasms unified by the presence of EWSR1-CREB1 and EWSR1-ATF1 genetic fusions.

3. Chen G, Folpe AL, Colby TV, Sittampalam K, Patey M, Chen MG, Chan JK. Angiomatoid fibrous histiocytoma: unusual sites and unusual morphology. Mod Pathol. 2011 Dec;24(12):1560-70.

AFH是发生在软组织的低度恶性潜能（即中间型或称为交界性）肿瘤，科发生在机体不同部位，但多是在浅表的软组织中。虽然青少年多发，但本文统计发病的中位年龄为48岁。

AFH的形态学上，肿瘤细胞呈树突样，呈多结节状集结生长；肿瘤外层可见淋巴细胞浸润带；具有含血腔隙结构（注：不一定都是血管，有CD34标记不含内皮的含血的血管样腔隙）；间有较多的浆细胞。除这些典型的形态学表现外，在少数病例有不常见的形态学表现，偶见瘤细胞胞浆透明、横纹肌肌母细胞样细胞、局灶呈肺水肿样观。

免疫组化标记EMA、desmin、SMA、CD68 和CD99 的阳性率分别为100%、63%、43%、100%和100%

Abstract

Angiomatoid fibrous histiocytoma is a soft tissue neoplasm of low malignant potential, typically occurring in the superficial soft tissues of the extremities in children and young adults. Occurrence outside somatic soft tissues is most uncommon. This report describes eight such cases, involving the lung (three cases), mediastinum (one case), vulva (two cases), retroperitoneum (one case) and ovary (one case), with the latter three locations being hitherto unreported sites of occurrence. Patients had a median age of 48 years, and presented with symptoms related to the mass lesion (five cases) or were incidentally found to harbor a tumor (three cases). Besides the typical histological features such as an outer shell of lymphoid tissue, multinodular aggregates of dendritic-like tumor cells, blood-filled spaces and abundant admixed plasma cells, unusual features were found focally in some cases, including clear cells, rhabdomyoblast-like cells, pulmonary edema-like pattern and tumor cell cords lying in a myxoid stroma. Immunoreactivity for the epithelial membrane antigen, desmin, smooth-muscle actin, CD68 and CD99 was found in 100, 63, 43, 100 and 100% of cases, respectively. Molecular studies provided support for the diagnosis in all seven tested cases-EWS gene translocation in six cases (partner gene being CREB1 in three and ATF1 in two in which information was available) and FUS gene translocation in one case. Comparison of the reported cases of extrasomatic angiomatoid fibrous histiocytoma with their somatic soft tissue counterparts showed a number of differences: higher mean age, slight male predominance (particularly for bone lesions), larger tumors, higher frequency of systemic symptoms, higher recurrence rate, myxoid change being more common and a much higher frequency of EWS/ATF1 gene fusion.