Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of low malignant potential and uncertain differentiation. Only three genetically investigated cases of AFH have been reported. Two of them displayed a FUS-ATF1 fusion gene and one showed an EWSR1-ATF1 chimera. Using RT-PCR analysis, we have identified the EWSR1-ATF1 fusion transcript, and delineated the genomic breakpoints, in two new cases of AFH. Previously, the EWSR1-ATF1 fusion protein has been suggested to activate expression of the MITF-M transcript, and therefore the expression pattern of the MITF gene was studied. The MITF-M transcript was not detected in either AFH, in line with the finding that the co-activator SOX10 was not expressed. Thus, of the five AFH that have been molecularly analyzed to date, two have displayed a FUS-ATF1 fusion gene and three have shown an EWSR1-ATF1 chimera. There is no apparent correlation between the type of fusion gene and clinicopathologic features. Nonetheless, RT-PCR for these fusion transcripts remains a valuable diagnostic adjunct in the distinction between AFH and other soft tissue tumors or metastases that may simulate it.
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PMID:Fusion genes in angiomatoid fibrous histiocytoma. 1718 28

Angiomatoid fibrous histiocytoma (AFH) is a rare soft-tissue neoplasm that most commonly appears in the limbs, typically affecting children and young adults. The tumor has a propensity for local recurrence and recurrent hemorrhage but rarely for remote metastasis. To date, only 2 reports have documented an intracranial occurrence of the tumor (1 of which was believed to be metastatic disease). This is the second report of primary intracranial AFH. Additionally, hemorrhage from an intracranial AFH lesion has yet to be reported, and little is known about the radiographic characteristics and biological behavior of these lesions. In this report, the authors describe the case of a patient with recurrent hemorrhage due to primary multifocal intracranial AFH. Initially misdiagnosed as a cavernous malformation and then an unusual meningioma, the tumor was finally correctly identified when there was a large enough intact resection specimen to reveal the characteristic histological pattern. The diagnosis was confirmed using immunohistochemical and molecular studies.
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PMID:Intracranial angiomatoid fibrous histiocytoma presenting as recurrent multifocal intraparenchymal hemorrhage. 1973 89

Angiomatoid fibrous histiocytoma (AFH) is a rare disease that is often misdiagnosed initially. Patients can present with a clinical picture concerning for other diseases, and pathologic review is not always revealing. Molecular diagnostics are increasingly being utilized to detect gene fusions characteristic for AFH. Surgery remains the mainstay of management, and can effectively control local recurrences and metastases. Herein we describe a case report of a 25-year-old gentleman whose presentation was concerning for lymphoma. Subsequently we review of the relevant literature.
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PMID:Angiomatoid fibrous histiocytoma in a 25-year-old male. 2113 23

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.
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PMID:Metastatic angiomatoid fibrous histiocytoma of the scalp, with EWSR1-CREB1 gene fusions in primary tumor and nodal metastasis. 2319 25

Angiomatoid fibrous histiocytoma (AFH) is a soft-tissue tumor of low-grade malignancy and uncommon metastatic behavior. In this study, we describe the clinical findings of a metastatic case of AFH in the pelvis. In addition, we characterize 16 patients in the literature with AFH who metastasized over the last 4 decades. The time of appearance of metastases varied substantially and was reported 5 months to 16 years after primary tumor resection. Nine patients metastasized to lymph nodes. Excision of metastatic lymph nodes was usually curative. Pulmonary metastases were associated with fatal outcome. Long-term monitoring should be considered in patients with AFH.
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PMID:Characterization of metastatic angiomatoid fibrous histiocytoma. 2575 19

Angiomatoid fibrous histiocytoma (AFH), a rare soft tissue tumor of borderline malignancy, typically occurs in the subcutis of the accessible soft tissues, most often in children and young adults. Lymph node and/or distant metastasis is seen in less than 2% of patients with AFH. Exceptionally rare examples of AFH have been reported in visceral locations, including the lung. We report a genetically confirmed primary pulmonary AFH in a 70-year-old woman with mediastinal lymph node metastasis, representing to the best of our knowledge the first report of metastases from a visceral AFH.
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PMID:Primary angiomatoid fibrous histiocytoma of the lung with mediastinal lymph node metastasis. 2754 1

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumour with intermediate malignant potential. We report the case of a patient with local recurrence of AFH in two locations and lymph node metastases 18 months after primary surgical excision. The patient was treated with six cycles of ifosfamide and doxorubicin chemotherapy and a further three courses of ifosfamide monotherapy. Reassessment imaging showed a good response to chemotherapy with reduction in size of the two tumours of local recurrence and the lymph node metastases. This case demonstrates that AFH can respond to chemotherapy, even though it is rarely used.
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PMID:Angiomatoid fibrous histiocytoma: A case of local recurrence and metastases to loco-regional lymph nodes that responded to chemotherapy. 2801 33

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that has been associated with EWSR1-CREB1 gene fusion. Outcome in patients with unresectable distant metastases is generally fatal. Interleukin-6 (IL-6) secretion has been described in tumors with EWSR1-CREB1 fusion, and may promote tumor growth due to autocrine stimulation. Tocilizumab is an IL-6 receptor antibody that has potential benefit as a targeted therapy in refractory neoplasms with IL-6 secretion. We describe a child with metastatic AFH with EWSR1-CREB1 fusion and elevated IL-6 whose disease progressed during treatment with traditional chemotherapeutic agents, but improved after targeted therapy with tocilizumab.
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PMID:Therapeutic response of metastatic angiomatoid fibrous histiocytoma carrying EWSR1-CREB1 fusion to the interleukin-6 receptor antibody tocilizumab. 2993 83

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that is most commonly reported to arise in the subcutaneous tissues of the upper extremities in adolescents and young adults. At present, the WHO classifies this neoplasm as a tumor of uncertain differentiation. AFH is most often clinically regarded as a tumor of intermediate risk due to low reported rates of recurrence and only rare occurrences of metastases. Its histomorphological hallmarks are a prominent lymphoid cuff surrounding a spindle cell neoplasm with syncytial-appearing cytoplasm. Several variant morphologies have been described. Genetically, the tumor is characterized by translocations involving the EWSR1 gene in over 90% of cases. A widening range of anatomical locations and morphological variants of AFH has been reported in the literature; however, neither anatomic location nor specific morphologic features have been shown to correlate with clinical/biological behavior. We report a unique case of AFH arising in the parenchyma of the breast. The neoplasm showed the typical histomorphology including a peripheral lymphoid cuff. The lesional cells in this case were found to be immunoreactive with desmin, and a positive EWSR1 result was confirmed by break-apart fluorescence in situ hybridization testing. To our knowledge, this is the first report of AFH arising in the breast parenchyma of a postmenopausal female.
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PMID:Intramammary Angiomatoid Fibrous Histiocytoma, a Rare EWSR1 Rearranged Mesenchymal Neoplasm in a Previously Unreported Anatomic Location with Review of the Cleveland Clinic Experience. 3123