Epithelioid angiosarcoma of the vulva: A case report.
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ABSTRACT:
SUBMITTER: Yost S
PROVIDER: S-EPMC5537087 | biostudies-other | 2017 Aug
REPOSITORIES: biostudies-other
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Project description:•We present a case of vulva epithelioid sarcoma, and review the articles.•The rarity of this disease causes delay in diagnosis and lack of guideline for optimal treatment.•Physicians should have high suspicions in diagnosing this vulvar disease using prompt biopsy without delay.
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Project description:Epithelioid sarcoma (ES) is rare and aggressive soft tissue neoplasm characterized by tumor cells showing epithelioid morphology and immunohistochemically, characteristic loss of INI1/ SMARCB1 in most cases. The proximal-type ES usually involves the deeper soft tissues of the vulva or perineum is an extremely rare entity with diagnostic challenges. Surgery is the mainstay of treatment in localized diseases. Radiation and chemotherapy are used in the advanced and metastatic setting, however, their role in the adjuvant setting is uncertain. Anthracycline and gemcitabine-based chemotherapy are given in metastatic and recurrent tumors. We report 4 cases of ES treated over a period of 6 years at our center. All the cases initially presented at a local hospital with vulvar swelling with a benign mimic (3/4) or squamous cell carcinoma (1/4). The median age of diagnosis was 34 years (range 17-80). The diagnosis was established with epithelioid morphology of tumor cells and immunohistochemically characteristic loss of INI1/SMARCB1 in all cases. 3 cases were treated with upfront surgery and two of them received adjuvant radiotherapy. One case received upfront palliative therapy due to lung metastasis at the time of presentation. On median follow-up of 24 months (2-63), 2 cases were disease-free. One case had a recurrence in the lungs and chest wall after a disease-free interval of 63 months. She underwent surgical excision of metastatic deposits, however developed second lung recurrence after 3 months and is being treated with Adriamycin-based chemotherapy. All patients are alive at the last follow-up.
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Project description:RationaleAngiosarcoma is a rare malignant tumors. The objective of this study is to report a patient who suffered from a progressive low back pain and left lower extremities radiation pain for about 8 months, After diagnoses, this was identified as an extremely rare case of primary multiple angiosarcoma of vertebra.Patient concernsA 54-year-old man with a history of 2-year hypertension and 8-year diabetes, both of which were well controlled by drug management. Lately, he suffered from a progressive low back pain and left lower extremities radiation pain for about 8 months.DiagnosesMagnetic resonance imaging of lumbar showed a clear pathological fracture and primary multiple angiosarcoma of all vertebra. Postoperative pathology and High-throughput sequencing confirmed the diagnosis of primary multiple angiosarcoma of vertebra.InterventionsThe patient underwent minimally invasive pedicle screw fixation combined with bone cement augmentation for the purpose of stabilizing the damaged vertebrae. Following operation, he received both radiotherapy and chemotherapy for a period of time.OutcomesThe operation has achieved positive results in relieving pain and stabilizing the spine. No wound problem or operative complications occurred after operation. The patient reported an obvious remission of low back pain and was only capable to perform restricted physiological activities. A long-term palliative radiotherapy and chemotherapy were performed after operation. Unfortunately, the patient died 18 months later.ConclusionThis article emphasizes primary multiple angiosarcoma of vertebra. Despite being rare, it should be part of the differential when the patient manifested back pain and radiculopathy. We recommended the minimally invasive pedicle screw fixation for angiosarcoma of vertebra. Osteoplasty by bone cement augmentation was also an ideal choice for surgical treatment. It also advocates the use of specific targeted radiotherapy drugs based on gene analysis of tumors.
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Project description:A 72-year-old female was referred for further evaluation of epigastralgia. Abdominal contrast computed tomography revealed numerous tumors in the two lobes of the liver. Liver biopsy and immunohistochemical staining revealed that the tumor cells were positive for factor VIII-associated antigen, platelet endothelial cell adhesion molecule 1 and human hematopoietic progenitor cell antigen, concordant with a diagnosis of hepatic epithelioid hemangioendothelioma (HEH). To elucidate the etiology of HEH, particularly the microRNA (miRNA) profiles, tissue samples obtained from normal and tumor tissues were analyzed using a miRNA array system. A total of 14 miRNAs were significantly upregulated and 93 miRNAs were downregulated in the tumor tissues (P<0.01). Additionally, unsupervised hierarchical clustering analysis using Pearson's correlation revealed that the tumor tissues clustered separately from the normal tissues. The miRNA expression profile was analyzed in HEH and compared with angiosarcoma, which exhibits histology similar to HEH. Out of a total of 107 miRNAs, only miR-122-5p and miR-1290 demonstrated a differential expression pattern in angiosarcoma. Therefore, these miRNAs may be novel biological markers for the determination of a diagnosis of HEH in primary mesenchymal tumors of the liver. To the best of our knowledge, this study is the first report of a miRNA microarray analysis in HEH.
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