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Journal ArticleDOI: 10.1080/02688697.2018.1451823

Primary intracranial angiomatoid fibrous histiocytoma: a case report and literature review.

04 Mar 2021-British Journal of Neurosurgery (Br J Neurosurg)-Vol. 35, Iss: 2, pp 233-235
Abstract: Angiomatoid fibrous histiocytoma (AFH) is a tumour primarily occurring in the extremities which can very rarely occur as an isolated intracranial lesion. We report a case of a 22-year-old woman presenting with generalized seizure and visual field deficit due to an occipital mass, which immunohistochemistry showed to be an AFH.

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11 results found

Open accessJournal ArticleDOI: 10.1016/J.WNEU.2019.02.107
01 Jun 2019-World Neurosurgery
Abstract: Background Intracranial angiomatoid fibrous histiocytomas (AFHs) are very rare tumors. Histologically, classical cases have been reported exclusively in adults, with myxoid variants identified only in children. Here, we report the clinical presentation, treatment, biopsy, and molecular test results for 2 children with classical intracranial AFH and combine this with a literature review of published intracranial AFH and AFH-like cases. Case Description Two young girls presenting with abnormal neurologic signs, received diagnoses of intracranial AFHs from histopathologic analysis. No myxoid features were identified. Fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction testing demonstrated EWS1–ATF1 and EWS1–CREM gene fusions, respectively, verified by Sanger sequencing. Both patients underwent surgery only. The first child experienced local recurrence 5 years from initial surgery. Following a further complete resection, this patient has remained recurrence free over a subsequent 6-year follow-up period. The second patient has recently experienced local multinodular recurrence 28 months after initial surgery and is awaiting surgical re-excision. No additional chemotherapy/radiotherapy has been administered to either patient. Conclusions This report describes the first 2 cases of nonmyxoid intracranial AFH in children; confirmed by molecular analysis. Our results suggest that a tumor spectrum incorporating classical and myxoid intracranial AFHs can occur in children and that gross total resection represents the treatment strategy of choice at diagnosis or following recurrence.

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18 Citations

Open accessJournal ArticleDOI: 10.7759/CUREUS.4261
18 Mar 2019-Cureus
Abstract: Angiomatoid fibrous histiocytoma (AFH) is a rare and slow-growing soft tissue lesion that typically arises in the extremities of young patients. Microscopically, AFH is characterized by pseudovascular, blood-filled spaces that are surrounded by a multinodular proliferation of spindle and/or round cells and lymphoid cuffs. However, there is a wide morphological spectrum, including a myxoid variant. Examples with a prominent myxoid matrix are rare and may pose great diagnostic difficulty. Specific gene fusions have been found to play a significant role in AFH tumorigenesis. Gene fusions of Ewing sarcoma breakpoint region 1 (EWSR1) with members of the cAMP response element-binding protein family (CREB) of transcription factors (CREB1, activating transcription factor 1 (ATF1), and cAMP response element modulator (CREM)) have been described in histopathologically diverse mesenchymal neoplasms such as AFH, hyalinising clear cell carcinomas of salivary glands, primary pulmonary myxoid sarcoma, and clear cell sarcoma. Classically, EWSR1-CREB is known to be the prominent gene fusion in AFH. Recently, a small series of intracranial mesenchymal tumors with EWSR1-CREB family gene fusions has been reported. These tumors seem to show histologic, immunophenotypic, and cytogenic features similar to those observed in the myxoid variant of AFH; therefore, there is a debate on whether these tumors merely represent a variant of AFH or a novel entity. This case report is of a 58-year-old woman presenting with the first episode of generalized seizure due to an extra-axial lesion with homogenous contrast enhancement in the right parietal lobe, which was initially diagnosed as a World Health Organization (WHO) grade I meningioma. Following a series of pathological investigations, the diagnosis of an intracranial myxoid variant of AFH was made. This case report illustrates the need to consider the myxoid variant of intracranial AFH in the differential diagnosis of meningioma-like tumors. A high index of suspicion is required if the meningioma behaves abnormally with a much higher recurrence rate.

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Topics: Angiomatoid fibrous histiocytoma (63%), Clear-cell sarcoma (52%), First episode (51%) ... show more

14 Citations

Open accessJournal ArticleDOI: 10.1111/BPA.12918
28 Jan 2021-Brain Pathology
Abstract: Intracranial mesenchymal tumors with FET-CREB fusions are a recently described group of neoplasms in children and young adults characterized by fusion of a FET family gene (usually EWSR1, but rarely FUS) to a CREB family transcription factor (ATF1, CREB1, or CREM), and have been variously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. The clinical outcomes, histologic features, and genomic landscape are not well defined. Here, we studied 20 patients with intracranial mesenchymal tumors proven to harbor FET-CREB fusion by next-generation sequencing (NGS). The 16 female and four male patients had a median age of 14 years (range 4-70). Tumors were uniformly extra-axial or intraventricular and located at the cerebral convexities (n = 7), falx (2), lateral ventricles (4), tentorium (2), cerebellopontine angle (4), and spinal cord (1). NGS demonstrated that eight tumors harbored EWSR1-ATF1 fusion, seven had EWSR1-CREB1, four had EWSR1-CREM, and one had FUS-CREM. Tumors were uniformly well circumscribed and typically contrast enhancing with solid and cystic growth. Tumors with EWSR1-CREB1 fusions more often featured stellate/spindle cell morphology, mucin-rich stroma, and hemangioma-like vasculature compared to tumors with EWSR1-ATF1 fusions that most often featured sheets of epithelioid cells with mucin-poor collagenous stroma. These tumors demonstrated polyphenotypic immunoprofiles with frequent positivity for desmin, EMA, CD99, MUC4, and synaptophysin, but absence of SSTR2A, myogenin, and HMB45 expression. There was a propensity for local recurrence with a median progression-free survival of 12 months and a median overall survival of greater than 60 months, with three patients succumbing to disease (all with EWSR1-ATF1 fusions). In combination with prior case series, this study provides further insight into intracranial mesenchymal tumors with FET-CREB fusion, which represent a distinct group of CNS tumors encompassing both intracranial myxoid mesenchymal tumor and angiomatoid fibrous histiocytoma-like neoplasms.

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Topics: Angiomatoid fibrous histiocytoma (60%), Brain tumor (55%), Sarcoma (54%) ... show more

9 Citations

Journal ArticleDOI: 10.1016/J.WNEU.2020.07.225
01 Nov 2020-World Neurosurgery
Abstract: Background Angiomatoid fibrous histiocytoma (AFH) is a rare, fibrohistiocytic, soft-tissue neoplasm. Intracranial AFH is extremely rare. Here we present 2 pediatric cases of intracranial AFH and perform a literature review on this disease entity. Case Description We present 2 cases. The first case is a 10-year-old boy who presented with seizures and hemiparesis. The second case is an 11-year-old girl who presented with 2-year history of seizures. Radiologic images demonstrated right frontal lesions in both patients. Complete surgical resection was achieved. Histopathological findings established the diagnosis of intracranial AFH confirmed with fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction testing that demonstrated EWSR1 gene rearrangement in both cases. Conclusions Twenty-two cases of intracranial AFH have been previously documented, with the majority of lesions located in the frontal lobe. Most cases occurred in adolescents and young adults, with a slight female predilection. Headaches and seizures constituted the most common clinical presentation. Complete surgical resection remains the standard of care in the management of this pathology.

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3 Citations


5 results found

Franz M. Enzinger1Institutions (1)
01 Dec 1979-Cancer
Abstract: This article describes 41 examples of an unusual fibrohistiocytic sarcoma which occurred primarily in the extremities of young individuals between the ages of 5 and 25 years (median 13 years). It manifested as a nodular subcutaneous growth that seldom caused tenderness or pain, and clinically was often mistaken for a hematoma or a hemangioma. Grossly, the tumor presented as a circumscribed, multinodular or multicystic, hemorrhagic mass that ranged in size from 0.7 to 10 cm (median 2.5 cm). On microscopic examination, it consisted principally of 1) solid arrays or nests of fibroblast- and histiocyte-like cells, not infrequently containing varying amounts of intracellular hemosiderin or lipid, 2) focal areas of hemorrhage or hemorrhagic cyst-like spaces, sometimes occupying the major portion of the tumor, and 3) aggregates of chronic inflammatory cells, chiefly lymphocytes and plasmacytes, a feature that caused confusion with a lymph node metastasis in several cases. Follow-up information, available in 24 patients, revealed a variable clinical course. Twenty-one patients were alive, 11 with recurrence (including one with 9 recurrences in a 21-year period) one with recurrence and metastasis and one with metastasis. Three patients had died of metastasis 1, 3, and 13 years respectively, after the initial surgical therapy. The exact histogenesis is still obscure. Most likely it is a tumor of fibroblast- and histiocyte-like cells, akin to malignant fibrous histiocytoma, but different in its age incidence, microscopic appearance, and behavior.

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Topics: Angiomatoid fibrous histiocytoma (60%), Sarcoma (54%), Hemangioma (52%) ... show more

324 Citations

Journal ArticleDOI: 10.1097/PAS.0B013E3181453451
Abstract: Angiomatoid fibrous histiocytoma (AFH) is generally considered a soft tissue sarcoma of low malignant potential that occurs in children/young adults and most frequently affects the extremities. AFH infrequently recurs and rarely metastasizes. AFH has a characteristic histomorphology, and immunohistochemical reactivities for desmin and CD68 have led to myofibroblastic and fibrohistiocytic histogenetic hypotheses, respectively. Although only a limited number of AFH cases have been molecularly characterized, many have demonstrated evidence of an underlying translocation event. Reverse transcription-polymerase chain reaction and fluorescence in situ hybridization studies suggest that chromosomal rearrangement in AFH most frequently involve the EWS, CREB, ATF-1, and FUS genes. We report the first pathologically confirmed case of an AFH presenting as an intracerebral primary in a previously healthy 25-year-old man. Genetic analyses revealed a t(12;22)(q13;q12) and a unique underlying clear cell sarcomalike type 1 EWS/ATF-1 gene fusion.

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74 Citations

Journal ArticleDOI: 10.3171/2009.8.JNS081518
Abstract: 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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42 Citations

Journal ArticleDOI: 10.1016/J.WNEU.2016.09.059
Mohammed Alshareef1, Zayed Almadidy1, Tiffany G. Baker1, Arie Perry2  +2 moreInstitutions (2)
01 Dec 2016-World Neurosurgery
Abstract: Background Angiomatoid fibrous histiocytoma (AFH) is a rare and low-grade soft tissue lesion that typically arises from subcutaneous and deep dermal tissue of extremities. The first case was reported in 1979 by Enzinger and has since become known as a distinct entity. AFH has been increasingly reported in different organ systems, with rare reports of primary intracranial AFH. To date there have been 3 reports of intracranial AFH and 1 report of metastasis to the brain, most of which were in young adults. Case Description In this paper, we present a case of an older patient with a large, petrous apex AFH that was clinically mistaken for a trigeminal nerve schwannoma. We discuss radiographic and histologic features initially found and the findings that ultimately led to the diagnosis of AFH. We also discuss the findings noted in all other reports of intracranial AFH. Conclusion We present a rare case of intracranial AFH in a patient relatively old for onset of diagnosis. To date, only 3 prior cases of AFH have been reported. The radiographic findings were nonspecific and initially pointed toward a diagnosis of schwannoma, whereas histopathology seemed to initially suggest meningioma. Further pathologic consultation finally confirmed AFH as the diagnosis. We suspect there are more cases of intracranial AFH that are misdiagnosed due to variability of findings on pathology. The behavior of this tumor remains in question as 1 of the 3 reported cases demonstrated significant recurrence. As such, gross total resection of this lesion is preferable.

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26 Citations

Journal ArticleDOI: 10.1177/0333102415583988
21 Apr 2015-Cephalalgia
Abstract: A 17-year-old female with migraine with aura complained of fatigue and was diagnosed with anemia. Three years later, changes in her headache pattern prompted hospital referral. Brain MRI showed a bi-lobed extra-axial intracerebral tumor encroaching both parieto-occipital regions. The resection specimen yielded a rare diagnosis of primary intracranial angiomatoid fibrous histiocytoma (AFH). Tumor removal resulted in cessation of her migraine and anemia. AFH may cause systemic symptoms – in this case fatigue and anemia – long before focal neurological symptoms are present. This is the first report of an intracranial AFH presenting as migraine with visual aura and anemia.

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Topics: Angiomatoid fibrous histiocytoma (64%), Migraine with aura (60%), Migraine (56.99%) ... show more

20 Citations

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