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OBJECTIVE: Pseudomyogenic hemangioendothelioma (PHE) is a rare intermediate hemangioendothelioma. This article aims to study the clinicopathological features of PHE.
METHODS: We collected the clinicopathological features of 10 new PHE, and examined their molecular pathological features by fluorescence in situ hybridization. In addition, we summarized and analyzed the pathological data of 189 reported cases.
RESULTS: The case group consisted of six men and four women aged 12-83 years (median: 41 years). Five instances occurred in the limbs, three in the head and neck, and two in the trunk. Tumor tissues were composed of spindle cells and round or polygonal epithelioid cells, which were either arranged in sheets or interwoven, along with areas of transitional morphology. Scattered or patchy stromal neutrophil infiltration was observed. Tumor cells had abundant cytoplasm, and some contained vacuoles. The nuclei had mild to moderate atypia, with visible nucleoli, and mitosis was rare. PHE tissues diffusely expressed CD31 and ERG, but not CD34, Desmin, SOX-10, HHV8 or S100, while some samples expressed CKpan, FLI-1 and EMA. INI-1 stain is retained. The proliferation index of Ki-67 is 10-35%. Seven samples were detected by fluorescence in situ hybridization, six of which had breakages in FosB proto-oncogene (AP-1 transcription factor subunit). Two patients experienced recurrence; however, no metastasis or death occurred.
CONCLUSIONS: PHE is a rare soft tissue vascular tumor, which has biologically borderline malignant potential, local recurrence, little metastasis, and good overall survival and prognosis. Immunomarkers and molecular detection are valuable for diagnosis.

Pseudomyogenic hemangioendothelioma (PHE) is an extremely rare disease that affects mainly the young and more men than women. PHE are multicentric, locally aggressive, have low metastatic potential, and affect multiple tissue planes. Genetic aberrations are frequently detected in PHE and may play important roles in the occurrence, development, and treatment of this disease. In this study, we report a case of PHE with a novel SERPINE1-FOSB fusion gene. The fusion introduced a strong promoter near the coding region of FOSB, resulting in overexpression of intact FOSB. Immunohistochemical analysis showed overexpression of pAKT and mTOR in tumor cells, suggesting activation of the PI3K-AKT-mTOR signaling pathway. The patient responded well to targeted therapy with sirolimus, an mTOR inhibitor. Our study correlated dysregulation of a specific signaling pathway and the effectiveness of a targeted therapy to a specific genetic aberration. This information may be useful for future investigations of targeted therapeutics and provide a potential predictive biomarker for therapeutic effectiveness in PHE cases.

We present here our experience with 24 cases of pseudomyogenic hemangioendothelioma (PMHE) to further delineate its clinicopathological spectrum. There were 18 males and 6 females with a median age of 28 years (range 10~64 years). Most patients presented with erythematous nodules or papules, with or without pain. The majority (63%) occurred in the lower extremities, whereas a minority involved the trunk (25%), upper extremities (8%), and head and neck (4%). Six cases (25%) had a primary bone origin. With physical and radiological examinations, 16 cases (67%) manifested as multifocal disease, involving multiple tissue planes or different bones within the anatomic region. Six cases (25%) involved skin, soft tissue, and bone simultaneously. Histologically, all cases showed features consistent with a PMHE characterized by loose fascicles or sheets of plump spindled to epithelioid cells harboring brightly eosinophilic cytoplasm and vesicular nuclei. In addition, five cases (21%) contained a prominent myxoid matrix, and one case displayed perineural and intravascular invasion. The follow-up information available in 18 patients revealed local recurrence in 4 patients (22%) and persistent disease in 8 patients (44%), respectively. One patient developed bilateral pulmonary metastases which showed significant remission after systemic chemotherapy. None of the patients died of the disease. As the clinical appearance of PMHE can be deceptive, a radiological examination is essential in identifying an insidious multifocal disease. Although PMHE has a predilection for the distal extremities of young males, this rare tumor type could also occur in unusual sites and affect middle-aged adults of both genders. The striking myoid appearance in association with myxoid stromal change may represent a potential diagnostic pitfall. Biologically, PMHE has an indolent clinical behavior, albeit metastatic disease may occur in rare instance.

OBJECTIVE: Pseudomyogenic hemangioendothelioma (PHE)/epithelioid sarcoma-like hemangioendothelioma (ES-H) is a rare vascular tumor of intermediate malignancy that commonly occurs in soft tissue of distal extremities of young adults. PHE typically has a multifocal presentation and can involve several tissue planes, including the dermis, subcutis, muscle and bone.
RESULTS: We present here a unique case of PHE/ESH that arose in the breast as well as a review of the published literature. The initial biopsy was interpreted as a metaplastic carcinoma. However, complete resection largely revealed plump epithelioid cells, and a more spindled cell component was also noted. The cells displayed abundant eosinophilic cytoplasm and central vesicular nuclei arranged in loose fascicles, with a mild, mixed acute and chronic inflammatory infiltrate. Overall, linear membranous staining of CD31 and lack of CD34 expression were highly suggestive of PHE. At the same time, FOSB immunoreactivity was observed, which supported PHE/ESH instead of metaplastic carcinoma. The patient has not shown recurrence in the half year follow up after total mastectomy.
CONCLUSIONS: To our knowledge, this is the first report of breast involvement in this neoplasm. Recognition of its histopathological features and immunohistochemical reactivity will prevent misdiagnosis of breast lesions.

BACKGROUND: Pseudomyogenic hemangioendothelioma (PMHE) is a recently described vascular neoplasm which typically occurs in the lower extremities of young to middle-aged adults.
METHODS: We present here a unique case of PMHE arising primarily in the vulva of a 51-year-old woman who presented with a painful vulvar nodule. Clinically, it was thought as Bartholin gland cyst, vulvar hematoma or papilloma. On surgery, two nodules were found with one located in the superficial dermis and the other in the deep subcutis. Histologically, these two nodules showed similar features, composed of fascicles or sheets of plump spindled to epithelioid cells with eosinophilic cytoplasm. Given the morphological resemblance to a myogenic tumor, the lesion was initially diagnosed as a rhabdomyosarcoma by the referring pathologist. However, a comprehensive reevaluation of the submitted slides made us reconsider a PMHE, which was subsequently confirmed by immunohistochemical study.
CONCLUSIONS: This case demonstrates that PMHE can also develop in the female external genitalia albeit extremely rare. This disease should be included in the differential diagnostic list of vulvar tumors with spindled to epithelioid morphology and cytokeratin-positive immunophenotypes.

BACKGROUND: Pseudomyogenic hemangioendothelioma is a rare soft tissue tumor usually found in young adults, predominantly males. Fibrous dysplasia is a common benign bone tumor, which accounts for 5~7 % of all the primary benign bone tumors. However, pseudomyogenic hemangioendothelioma secondary to fibrous dysplasia is extremely rare. To the best of our knowledge, this is the first case of pseudomyogenic hemangioendothelioma secondary to fibrous dysplasia.
METHODS: This study describes a case of a 14-year-old female who suffered from pseudomyogenic hemangioendothelioma secondary to fibrous dysplasia of the left lower extremity. The patient underwent two operations successively due to pathological fractures in the left femur and tibia in a local hospital. She was diagnosed with fibrous dysplasia according to the postoperative pathological examinations. However, less than 1 year later, she was diagnosed with a recurrence of fibrous dysplasia in her left femur during a follow-up in our hospital. She underwent a curettage and grafting in the left femur. Postoperative pathological examinations demonstrated the diagnosis of fibrous dysplasia. Nevertheless, she presented to our clinic with a chief complaint of pain and swelling in her left tibia and calcaneus 4 months later. The patient underwent fine-needle aspiration in her left tibia. According to the histological and immunohistochemical findings, the diagnosis of pseudomyogenic hemangioendothelioma was confirmed by an expert pathology consultant. Finally, the patient had to undergo an amputation of the left thigh. Postoperative pathological examinations confirmed the diagnosis of pseudomyogenic hemangioendothelioma. Postoperative follow-up at 3 months disclosed no evidence of recurrent disease and no residual side effects from therapy.
CONCLUSIONS: Pseudomyogenic hemangioendothelioma is a rare endothelial neoplasm which often mimics myoid and epithelioid tumors morphologically. For the diagnosis, the immunostaining is very important but not decisive and enough. Analysis based on any single factor or incomplete information may easily lead to arbitrary conclusion. Clinical information including age, gender, tumor location, disease course, and recurrence is important for appropriate diagnosis, and full understanding of the tumor is indispensable.