骨原发性上皮样血管肉瘤2例报道并文献复习

目的提高对骨原发性上皮样血管肉瘤(epithelioid angiosarcoma,EA)的认识,避免误诊。方法对2例原发于骨的EA进行临床病理、组织学及免疫组化分析,并进行文献复习。结果 2例均为男性,为骨组织内的多灶性、溶骨性病变,组织学上肿瘤主要由实性片状排列的上皮样细胞组成,瘤细胞核大,空泡状,含有明显核仁,可见细胞内空泡和血管腔样结构形成。免疫组化标记显示瘤细胞表达CD31、FⅧRAg、CK、vimentin。分别进行单纯化疗和手术治疗。1例失访,1例2个月后死亡。结论骨原发性EA是一种具有上皮样特征的高度恶性血管源性肿瘤,必须与转移癌等鉴别,CD31、CK等血管标记物对鉴别诊断具有重要的意义。     

Epithelioid angiosarcoma at chest wall which needs to be carefully distinguished from malignant mesothelioma: report of a rare case

Angiosarcoma is a malignant soft tissue tumor the cells of which variably recapitulate the morphologic and functional features of normal endothelium. Most lesions are located in the deep muscles of the lower extremities followed by the arm, trunk and head and neck. Herein we present a case of epithelioid angiosarcoma which is a variant of angiosarcoma at chest wall in a 73-year-old female. Morphologically, the tumor cells are arranged predominantly in luminal structures which can be seen in both angiosarcoma and malignant mesothelioma. Most of the tumor cells are large rounded “epithelioid” cells with abundant eosinophilic cytoplasm which can be also seen in both tumors. The epithelioid of cytomorphology and the localization at chest wall of this case may remind of a diagnosis of malignant mesothelioma which should be carefully distinguished from epithelioid angiosarcoma from imaging and morphology. CT scanning of the patient shows a mass at her chest wall, the majority of which is around the rib but not inside the lung which indicates a tumor originates more likely from soft tissues of chest wall but not pleura. Immunohistochemical staining shows that the tumor cells are positive for cytokeratin, CD31, Vimentin and WT1, and negative for CEA, TTF-1, Calretinin, Mesothelial Cell (MC), CD56, CK19, and Hepatocyte. Thus this case is diagnosed as epithelioid angiosarcoma but not malignant mesothelioma. From this case we suggest that carefully reading and understanding of the imaging are a very important clue for appropriate diagnosis. A misdiagnosis may occur on the basis of misunderstanding of tumor localization and a consequent inappropriate immunohistochemical staining programme.     

Postradiation angiosarcoma of the small intestine: a case report and review of literature

Postradiation angiosarcoma is typically a high-grade sarcoma that presents mainly in the skin and superficial tissues. Postradiation angiosarcoma arising in the small intestine is rare with only 11 cases documented in the English-language literature. Herein, we report a postradiation angiosarcoma of the small intestine 9 years after radiotherapy for uterine cervical adenocarcinoma. The patient presented with symptoms of intestinal obstruction. At exploratory laparotomy, tumor nodules involved the small bowel. Microscopically, the neoplasm was composed of spindled and epithelioid cells arranged in solid aggregates and focally forming vascular channels. The diagnosis of angiosarcoma was confirmed immunohistochemically by tumor cell expression of CD31, CD34, and factor VIII-related antigen. The patient died 10 months after laparotomy. The diagnosis of PRA should be entertained for any poorly differentiated neoplasm arising in a previously irradiated site. The correct diagnosis of PRA depends upon histomorphologic identification of vascular differentiation, coupled with immunohistochemical expression of endothelial-related markers.     

Fine-needle aspiration cytology of epithelioid angiosarcoma: a diagnostic dilemma

A 28-year-old woman with a 2-yr history of unilateral chronic leg swelling, initially thought to be secondary to deep vein thrombosis, later thought to be due to congenital venous malformation, eventually developed a pelvic mass, which was biopsied by fine-needle aspiration. On the basis of cytologic features on smears, high-grade sarcoma was reported. The patient underwent surgery to resect the pelvic mass, which showed anastomosing vascular channels arising from external iliac vein in histology. However, the tumor cells unexpectedly showed strong and diffuse immunohistochemical expression of cytokeratin and epithelial membrane antigen. The case was sent for expert consultation, and the expert's opinion was epithelioid angiosarcoma. The expert's diagnosis was confirmed 2 yr later by local recurrence. The clinical presentation, cytology, histology, and immunohistochemistry of the current case and 15 other cases of epithelioid angiosarcoma found in the cytology literature are summarized. This case illustrates that morphology with clinicopathologic correlation tends to be a better guide than available special techniques.     

Primary peritoneal epithelioid hemangioendothelioma

Epithelioid hemangioendothelioma is an uncommon malignant vascular tumor of intermediate grade that occurs in a variety of organs and soft tissues. Diagnosis of epithelioid hemangioendothelioma is often complicated by the rarity of the tumor, and because the tumor shares many morphologic features with other peritoneal neoplasms. This report presents 3 cases of epithelioid hemangioendotheliomas arising as primary tumors of the peritoneum and reviews 7 previously reported cases to establish the demographic, clinical, morphologic, immunohistochemical, and ultrastructural features of this neoplasm. These cases demonstrate that the light microscopic features are very similar to epithelioid hemangioendothelioma arising at more conventional sites, such as the liver, that immunohistochemical analysis provides a reliable approach for confirming or establishing the diagnosis, and that at least one endothelial marker (either CD31, CD34, or factor VIII) should be positive for a definitive diagnosis. This series identifies the characteristics of peritoneal epithelioid hemangioendothelioma that can be reliably used for diagnosis.     

Primary epithelioid angiosarcoma of the pleura: a case report and review of literature

Primary angiosarcoma of the pleura is an extremely rare malignancy. Herein, we report the case of an elderly Chinese patient with primary left pleural epithelioid angiosarcoma. The 76-year-old man presented with a 4-month history of a cough with sputum expectoration and weight loss of 4 kg within one month. A chest scan showed a massive oval-shaped mass in the left pleural cavity. We then performed a left thoracotomy for tumor resection and surgical exploration. Histological examination of the resected specimen showed few viable tumor cells with significant atypia; tumor cells had large nuclei and prominent nucleoli and were arranged in a crack-like, sheeted pattern. Moreover, there was a significant amount of fibrinous exudates, hemorrhage, degeneration, and necrosis. With immunohistochemical analysis, tumor cells had strong expression of CD31, CD34, FLI-1, vimentin. Morphological and immunohistochemical findings supported the diagnosis of epithelioid angiosarcoma.     

上皮样血管肉瘤的临床病理分析

目的 分析上皮样血管肉瘤的临床病理特点及需进行鉴别诊断的肿瘤。方法 利用HE染色,免疫组织化学抗生物素蛋白-生物素复合物法（ABC法）观察15例上皮样血管肉瘤,电镜观察其中12例,结果 15例中12例为男性,3例为女性,发生部位;腹膜后3例,四肢软组织3例,肌骨4例,甲状腺2例,眶上缘1例,胸壁软组织1例,颈部软组织1例。临床症状包括局部肿物及其引起的疼痛,消瘦,乏力。影像学检查显示肿瘤多为实性或囊实性,直径可达3-20cm。镜下观察瘤组织或弥漫成片或聚集成巢,伴有出血和多灶坏死,瘤组织内常见大小不等的不规则腔隙,衬附异型瘤细胞,单个瘤细胞或多个瘤细胞形成空腔包绕红细胞。电镜可观察到胞质内空泡,W-P小体,中间丝及细胞基底膜的存在,瘤细胞可表达CD34,CD31,Ⅷ因子相关抗原,细胞角蛋白,上皮膜抗原,血管周细胞表达平滑肌肌动蛋白,临床主要采用手术切除的治疗方法,偶尔辅以放疗。随访/2例存活,术后存活期分别为19个月,7年;12例已死亡,术后存活期最短为2周,最长38个月,平均19个月;1例失访。8例患者发生肺,骨,淋巴结和腹腔转移。结论 上皮样血管肉瘤是高度恶性肉瘤,免疫组织化学检测和电镜观察有助于确定肿瘤的内皮分化,上皮样血管肉瘤需与转移癌,上皮样血管内皮细胞瘤,恶性黑色素瘤,上皮样肉瘤等鉴别。     

TFE3‐rearranged hepatic epithelioid hemangioendothelioma—a case report with immunohistochemical and molecular study

A recurrent YAP1‐TFE3 gene fusion has been identified in WWTR1‐CAMTA1‐negative epithelioid hemangioendotheliomas arising in soft tissue, bone, and lung, but not in liver. We present the first case of TFE3‐rearranged hepatic epithelioid hemangioendothelioma in a 39‐year‐old Taiwanese woman. Computed tomography scan revealed multifocal, ill‐defined nodules involving both hepatic lobes. She then underwent deceased donor liver transplantation. Histologically, the tumors in the liver explant showed a biphasic growth pattern. One component was composed of dilated and well‐formed blood vessels lined by epithelioid cells with abundant eosinophilic cytoplasm, mimicking an alveolar pattern, whereas the other component was composed of cords and single cells, featuring intracytoplasmic vacuoles, separated by a myxoid stroma. The tumor cells showed vesicular nuclei and small indistinct nucleoli with mild to moderate cytologic atypia. Most tumor cells showed factor VIII, CD34, CD31, and TFE3 positivity in immunohistochemical study. Fluorescence in situ hybridization analysis for the tumor cells exhibited TFE3 gene rearrangement. The patient is currently alive, and no post‐operative tumor recurrence developed during a 13‐year follow‐up. Awareness of this rare vasoformative variant and identification of the gene rearrangement would be helpful on differential diagnosis with other high‐grade carcinoma and angiosarcoma of liver.     

Primary pleural angiosarcoma associated with pneumoconiosis: An autopsy case

We report a case of pleural angiosarcoma in an adult male patient confirmed by autopsy and possibly associated with pneumoconiosis. The lesion was characterized by thickened pleura of both lungs with nodular tumors. Histologically, the tumor was composed of spindle‐to‐polygonal epithelioid cells that were positive for CD31, CD34, vimentin, and cytokeratin on immunohistochemical staining but were negative for calretinin. Further examination revealed mix‐dust pathological findings consistent with the existence of pneumoconiosis; dystrophic ossification, anthracosis, and fractal small dust particles were observed in the lung parenchyma and a hilar lymph node. The current case suggests that pneumoconiosis‐associated pathologies may be risk factors for the development of angiosarcoma in the pleura.     

Primary angiosarcoma of the thyroid gland with recurrence diagnosed by fine needle aspiration: A case report

Angiosarcoma of the thyroid is a rare and aggressive primary malignant tumor of the thyroid originally reported in patients from the Swiss Alpine region. Diagnosis of this tumor rests mainly on characteristic histopathological features of a malignant vascular tumor supported by immunopositivity for vascular markers e.g., CD31, Factor VIII, and CD34. Its cytological features, however, are not well‐defined. We describe a case of primary angiosarcoma of the thyroid in a 48‐year‐old female, who presented with a rapidly enlarging neck mass associated with compressive symptoms. She had a history of hypothyroidism. The initial fine needle aspiration cytology of the neck mass was negative. She then underwent left hemithyroidectomy. Histologically, the tumor showed poorly differentiated malignant cells with eccentrically‐placed nuclei, prominent nucleoli, and intracytoplasmic vacuoles admixed with mixed inflammatory cells. These showed immunopositivity for CD31 but were negative for CD34, Factor VIII, CK5/6, EMA, TTF‐1, Thyroglobulin, Calcitonin, Melan A, and Calretinin. A diagnosis of poorly differentiated malignant tumor consistent with angiosarcoma was made. The patient was treated with radiation therapy but developed recurrence of the tumor. Second aspiration cytology of the recurrent tumor yielded hypocellular smears containing singularly dispersed atypical cells having eccentrically‐placed nuclei with prominent macronucleoli and intracytoplasmic vacuoles within a background of inflammatory cells, consistent with recurrent angiosarcoma. Chemotherapy was started but she succumbed to the disease 7 months after diagnosis. The cytological, histopathological, immunohistochemical findings, and the clinical course are discussed. Diagn. Cytopathol. 2009. © 2009 Wiley‐Liss, Inc.     

Proximal-type epithelioid sarcoma in the pelvic soft tissues

A case of proximal-type epithelioid sarcoma arising in the pelvic soft tissues of a 46-year-old man is presented. The tumor showed a predominantly epithelioid component with rhabdoid features, cord-like arrangement, small nests, abundant eosinophilic cytoplasm containing intracytoplasmic, paranuclear, hyaline-like globules, large vesicular nuclei, and prominent nucleoli. There were foci with alveolar arrangement and a spindle-cell proliferation. The tumor cells were positive for cytokeratin CAM5.2, vimentin, epithelial membrane antigen, and CD34. Flow cytometry showed a diploid DNA content with high S-phase fraction. The patient had pelvic lymph-node metastases. He died of the disease 5 months after diagnosis. It is important to include proximal-type epithelioid sarcoma in the differential diagnosis of pelvic tumors.     

Epithelioid hemangioendothelioma with extensive cystic change and CAMTA1 rearrangement

Epithelioid hemangioendothelioma (EHE) is a rare vascular neoplasm that has the ability to recur locally and metastasize. Thus, it is important to distinguish this tumor from other epithelioid vascular neoplasms. A 47‐year‐old man presented to our hospital with a pelvic mass with severe ischialgia and weight loss. Surgical resection was performed, and the mass was found to have dark red multiloculated cysts with hemorrhage and calcification. The histopathologic examination showed a central sclerotic, hypocellular zone and a peripheral cellular zone. Only the peripheral portion of the wall revealed nested tumor cells in light blue myxoid stroma. These tumors are typically composed of short strands or cords of bland epithelioid cells with occasional intracytoplasmic lumens embedded in a myxohyalinized stroma. The tumor cells were positive for CD31 and CD34 and negative for factor VIII‐related antigen, CK (AE1/AE3) and S‐100. The tumor nuclei showed distinct break‐apart signals with individual green and/or red signals, indicating the presence of CAMTA1 rearrangement. In this study, we report a case of EHE that was difficult to diagnose based on histology alone. Therefore, we also performed fluorescence in situ hybridization, and found that the tumor harbored a CAMTA1 gene rearrangement, which confirmed the diagnosis.     

Sclerosing Sertoli cell tumor without expression of typical sex cord stromal tumor markers: case report and literature review

Sertoli cell tumor is a potential histologic mimic of other tumors, such as seminoma due to similar histology and overlapping clinical presentation. Sclerosing Sertoli cell tumor is a rare sex cord stromal tumor variant, with 16 cases reported in the English literature. We present an unusual case of sclerosing Sertoli cell tumor in a 33-year-old Caucasian male, which was negative or weakly reactive using immunohistochemical markers typically positive in Sertoli cell tumors. The tumor was positive for cytokeratin AE1/AE3, CAM 5.2, vimentin, CD56, CK8, synaptophysin and S100, and negative for inhibin, calretinin, WT1, CD99, CD117, CK5/6, CK7, chromogranin A, placental alkaline phosphatase, neuron specific enolase, D2-40, smooth muscle actin, Melan-A, epithelial membrane antigen and carbonic anhydrase IX. This is the second reported case of a Sertoli cell tumor with reactivity limited to neuroendocrine markers and the first such case of the sclerosing variant. A literature review of sclerosing Sertoli cell tumor, including English and non-English literature, is described. Our case highlights that expected immunohistochemical markers may be negative, and awareness of antigenically unreactive tumors is needed to avoid confusion between Sertoli cell tumor and other entities.     

Hemangioblastoma of pelvic cavity: report of a case and review of literature

Hemangioblastoma of soft tissue is a very rare tumor of uncertain histological type. Herein, we reported a 51-year-old woman was found to have a solid and cystic mass measuring 31×30 mm in the right adnexa area on a computed tomography scan. The tumor showed the typical histology of hemangioblastoma. Tumor was composed of numerous capillaries and stromal cells with cytoplasmic vacuolization. Immunohistochemical study revealed that the tumor stromal cells were positive for CD56, S-100 protein, NSE, Syn, CgA, and inhibin-α. Focal EMA positivity was present. Ki-67 expression was found in approximately 1% of tumor cells. The tumor cells were negative for CK, HMB-45, Melan-A, SMA, and CD68. The differential diagnosis of Hemangioblastoma arising in pelvic cavity includes hemangioma, hemangioendothelioma, liposarcoma, renal cell carcinoma, fat-forming solitary fibrous tumor, paraganglioma, and perivascular epithelioid cell tumor (PEComa).     

CD31 staining in epithelioid sarcoma

We report an unusual case of epithelioid sarcoma. The tumour occurred in the finger of a 27-year-old female. The clinical history, histology and the electron microscopy of the lesion were typical for epithelioid sarcoma. However, immunohistochemical analysis showed strong membranous CD31 staining, a finding hitherto not described. All other robust vascular markers, including factor-VIII-related antigen (FVIIIrag) were negative. The findings were compared with the available literature data, leading us to conclude that there is insufficient evidence for endothelial derivation of epithelioid sarcoma, but in the differential diagnosis with vascular tumours CD31 may stain and to rule out angiosarcoma FVIIIrag is a useful antibody.     

肾透明细胞肉瘤的临床病理及免疫表型特征

目的 探讨肾透明细胞肉瘤（clear cell sarcoma of the kidney,CCSK）的临床病理特点、免疫表型特征及鉴别诊断。方法 应用HE和免疫组化vimentin、bcl-2、desmin、S-100蛋白、CD99、CD34、CDll7、CK、EMA染色,观察2例CCSK的病理组织学形态,并复习文献。结果 镜下见瘤细胞为上皮样或短梭形,被分枝状纤维血管间质分隔成巢团状,部分区域见黏液样变性微囊肿和细胞外胶原玻璃样变类似骨样组织的硬化型等形态变异。免疫组化示：瘤细胞vimentin和bcl-2弥漫阳性,余为阴性。结论 CCSK是一种罕见的儿童期恶性肾肿瘤,诊断主要依靠组织病理学和免疫组化,熟悉其形态学变异有利于与其它类似病变如肾母细胞瘤、先天性中胚叶肾瘤、肾恶性横纹肌样瘤、原始神经外胚叶肿瘤等鉴别。     

Cytology of angiosarcoma. Findings in fourteen fine-needle aspiration biopsy specimens and one pleural fluid specimen

We report the cytologic features of 15 cases of angiosarcoma from various sites and include 14 fine-needle aspiration (FNA) biopsy specimens and 1 pleural fluid specimen. Six were initial diagnoses with histologic confirmation; an additional case in the liver was an initial diagnosis without tissue confirmation. One case represented lymph node metastasis from a primary prostatic epithelioid angiosarcoma. In 10 cases, immunohistochemical staining for factor VIII-related antigen, CD34, CD31, or Ulex europaeus agglutinin I was performed on the cytology or histology specimen. The aspirates varied in cellularity, and the degree of nuclear atypia ranged from relatively bland in a case of low-grade angiosarcoma of the prostate to highly pleomorphic in a lymph node metastasis from a facial cutaneous angiosarcoma. Vasoformative features such as intracellular RBCs, well-formed vessels, attempts at microacinar/lumen formation, and intracytoplasmic lumens were variably present. The background was bloody in all specimens, with necrosis in rare cases. This cytologic series emphasizes that the cytologic features are heterogeneous but that the diagnosis can be suggested by fine-needle aspiration (FNA) when vasoformative features are present. The diagnosis can be made conclusively by FNA with immunocytochemical confirmation of endothelial differentiation.     

Sarcomatoid carcinoma in the pelvic cavity

Sarcomatoid carcinoma in the pelvic cavity is very rare. A 58-year-old Japanese man was admitted to our hospital because of lower abdominal fullness. CT and MRI revealed a large mass in the left pelvic cavity. Transurethral bladder endoscopy showed tumor invasion, and large biopsies were obtained from the bladder lesion. Histologically, the tumor was composed of malignant round cells with hyperchromatic nuclei. Many intracytoplasmic vacuoles were present. No carcinomatous areas were seen. Immunohistochemically, the tumor cells were positive for cytokeratin (CK) 18, vimentin, p53 and Ki-67 (labeling 80%). The tumor cells were negative for panCK AE1/3, CD5/6, CK7, CK8, CK14, CK19, CK20, CK 34BE12, EMA, desmin, calretinin, WT-1, S100 protein, α-smooth muscle actin, CEA, CD34, CD45, CD20, factor VIII-related antigen, synaptophysin, p63, CDX2, and myoglobin. Because the CK18 was diffusely expressed, the pathological diagnosis was sarcomatoid carcinoma.     

Multicentric contiguous variant of epithelioid angiosarcoma of the bone. A rare variant showing angiotropic spread

Epithelioid angiosarcoma of the bone is a rare tumor and is a diagnostic challenge. Here we present an autopsy case of a 62-year-old man with multifocal osteolytic lesions in the extremities and the pelvis. The initial diagnosis of a tibial biopsy was poorly differentiated adenocarcinoma. On the occasion of autopsy, a fungating thrombotic nodule was found at the anterior wall of the right atrium, and small hemorrhagic infarcts with tumor thrombi were found in the lung. Histologically, the above lesions were identical to the former tibial biopsy and they showed large eosinophilic epithelioid cells with irregular ovoid nuclei and prominent eosinophilic nucleoli. Rare intracytoplasmic lumina were identified. Immunohistochemically, the tumor cells were positive for cytokeratins (CAM5.2 and AE1/AE3), CD31, factor VIII-related antigen, and vimentin. This case showed angiotropic spread of the tumor only to the right atrium and the lung, with no solid mass in other organs. Multicentric epithelioid angiosarcoma of the bone is a pitfall in pathological diagnoses, especially if a strong radiological impression of metastatic carcinoma is provided. Therefore, pathologists should be aware of this rare variant.     

骨上皮样血管内皮瘤4例及文献复习

目的探讨4例骨上皮样血管内皮瘤(epithelioid hemangioendothelioma,EHE)的临床病理特点、诊断和鉴别诊断。方法对4例原发于骨的EHE临床资料、组织学、免疫组化进行观察分析并随访,结合文献讨论。结果 4例骨EHE中男性和女性各2例,中位年龄24岁,发生部位包括右肩胛骨、腰4～5椎体、胫骨下段和左足。临床症状主要为疼痛,影像学资料提示溶骨性改变;镜下示上皮样的肿瘤细胞呈巢状、索状或小梁状排列,肿瘤细胞呈圆形、多边形间或梭形,常见明显的胞质内空泡并伴有周围间质的玻璃样或黏液样变性。免疫表型:瘤细胞CD31、CD34、α-SMA均阳性(100%),CKpan有1例阳性(25%),EMA均阴性(100%),肿瘤增殖标记Ki-67呈低表达。结论原发于骨的EHE是一种少见的低度恶性的血管源性肿瘤,它的诊断要结合临床和影像学资料,依据其病理学特征及相关的免疫组化特点综合判断,需与骨转移性癌、上皮样血管瘤、上皮样血管肉瘤(epithelioid angiosarcoma,EAS)等鉴别。