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

doi:10.1080/02688697.2018.1451823

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

Journal Article•DOI•

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

Moshe Spatz¹, Eric S. Nussbaum¹, Lisa Lyons², Simi Greenberg¹, Kevin M. Kallmes³, Leslie A. Nussbaum¹ - Show less +2 more•Institutions (3)

United Hospital¹, Allina Health², Duke University³

04 Mar 2021-British Journal of Neurosurgery (Br J Neurosurg)-Vol. 35, Iss: 2, pp 233-235

TL;DR: 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 is reported.

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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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Journal Article•DOI•

Intracranial mesenchymal tumor with FET-CREB fusion - a unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms.

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Emily A. Sloan¹, Jason Chiang², Javier Villanueva-Meyer¹, Sanda Alexandrescu³, Jennifer M. Eschbacher⁴, Wesley Wang⁵, Manuela Mafra, Nasir Ud Din⁶, Emily Carr-Boyd, Michael Watson, Michael Punsoni⁷, Angelica Oviedo⁸, Ahmed Gilani⁹, Bette K. Kleinschmidt-DeMasters⁹, Dylan J. Coss¹⁰, M. Beatriz S. Lopes¹⁰, Corey Raffel¹, Mitchel S. Berger¹, Susan M. Chang¹, Alyssa Reddy¹, Biswarathan Ramani¹, Sean P. Ferris¹, Julieann C. Lee¹, Jeffrey W. Hofmann¹, Soo-Jin Cho¹, Andrew E. Horvai¹, Melike Pekmezci¹, Tarik Tihan¹, Andrew W. Bollen¹, Fausto J. Rodriguez¹¹, David W. Ellison², Arie Perry¹, David A. Solomon¹ - Show less +29 more•Institutions (11)

University of California, San Francisco¹, St. Jude Children's Research Hospital², Boston Children's Hospital³, St. Joseph's Hospital and Medical Center⁴, Ohio State University⁵, Aga Khan University Hospital⁶, University of Nebraska Medical Center⁷, Dalhousie University⁸, University of Colorado Boulder⁹, University of Virginia Health System¹⁰, Johns Hopkins University School of Medicine¹¹

28 Jan 2021-Brain Pathology

TL;DR: 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 intrac Cranial myxoid mesenchyal tumor and angiomatoid fibrous histiocytoma‐like neoplasms.

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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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38 citations

Journal Article•DOI•

Intracranial Angiomatoid Fibrous Histiocytoma with EWSR1-CREB Family Fusions: A Report of 2 Pediatric Cases.

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Athanasios Konstantinidis¹, Edmund Cheesman², James O'Sullivan², Juljia Pavaine³, Shivaram Avula¹, Barry Pizer¹, John-Paul Kilday¹ - Show less +3 more•Institutions (3)

Boston Children's Hospital¹, University of Manchester², Manchester Academic Health Science Centre³

01 Jun 2019-World Neurosurgery

TL;DR: The 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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33 citations

Journal Article•DOI•

Intracranial Myxoid Variant of Angiomatoid Fibrous Histiocytoma: A Case Report and Literature Review

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Nooshin Ghanbari¹, Alexander Lam¹, Victor Wycoco¹, Gabriel Lee²•Institutions (2)

Royal Perth Hospital¹, Sir Charles Gairdner Hospital²

18 Mar 2019-Cureus

TL;DR: 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 is illustrated the need to consider the myxoid variant of intracranial AFH in the differential diagnosis of meningioma-like tumors.

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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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19 citations

Journal Article•DOI•

Distinct clinicopathological features of pulmonary primary angiomatoid fibrous histiocytoma: A report of four new cases and review of the literature.

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Zheng Wang¹, Liping Zhang², Li Ren, Dongge Liu¹, Jun Du¹, Min Zhang¹, Ge Lou³, Ying Song, Yin Wang, Chunyan Wu², Guiping Han³ - Show less +7 more•Institutions (3)

Peking Union Medical College¹, Tongji University², Harbin Medical University³

01 Feb 2021-Thoracic Cancer

TL;DR: The aim of this study was to highlight the clinicopathological features of pulmonary primary angiomatoid fibrous histiocytoma to assist with a differential diagnosis of PPAFH.

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Abstract: Background The aim of this study was to highlight the clinicopathological features of pulmonary primary angiomatoid fibrous histiocytoma (PPAFH) to assist with a differential diagnosis. Methods There were 10 previous reports in the literature and four new PPAFH cases reviewed in this study. Immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) and DNA and RNA-based next-generation sequencing (NGS) was performed in the four new cases reported here. Results In the four new PPAFH cases, the ages of occurrence were in patients age from 33 to 55 years and tumor sizes were from 1.5 to 8 cm. Three of four (75.0%) tumors were located in the endobronchus. The most common morphological changes included delineated fibrous capsule (100%, 4/4), lymphoplasmacytic cuff (100%, 4/4), and dense or richly lymphoplasmatic infiltration (100%, 4/4). IHC analysis revealed that the tumor cells of four cases expressed vimentin and TLE1, ALK and CD163 or CD68 was positive in three cases, epithelial membrane antigen (EMA), desmin was positive in two cases, and SMA focal positive expression was observed in two cases. EWSR1 gene rearrangement was positive in all PPAFH cases (100%, 4/4) by FISH detections and four cases were confirmed as EWSR1-CREB1 fusion variant by DNA and RNA based NGS. No regional lymph nodes and distal metastasis, recurrences and death of disease after surgical excision were recorded in all four cases. Conclusions PPAFH is a very unusual pulmonary primary mesenchymal tumor and the clinicopathological features are like other unusual sites counterparts, but with a smaller tumor size, related with large airway, with a tendency to exhibit benign biological behavior, with EWSR1 gene rearrangement and higher frequency of EWSR1-CREB1 gene fusion. Key points Significant findings in the study: In comparison with "classic somatic" and nonpulmonary visceral angiomatoid fibrous histiocytoma, pulmonary primary angiomatoid fibrous histiocytoma display distinct clinicopathological features and prognosis. What this study adds The study provided the pathological differential diagnostic criteria and clinico-pathological features for pulmonary primary angiomatoid fibrous histiocytoma.

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7 citations

Journal Article•DOI•

Broadening the Age of Incidence of Intracranial Angiomatoid Fibrous Histiocytoma With EWSR1-CREM Fusion: A Case Report.

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Andrea R Gilbert¹, Lei Yan¹, Cameron M. McDougall¹•Institutions (1)

University of Texas at Austin¹

01 Nov 2020-Journal of Neuropathology and Experimental Neurology

6 citations

References

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Journal Article•DOI•

Angiomatoid malignant fibrous histiocytoma. A distinct fibrohistiocytic tumor of children and young adults simulating a vascular neoplasm

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Franz M. Enzinger¹•Institutions (1)

Armed Forces Institute of Pathology¹

01 Dec 1979-Cancer

TL;DR: 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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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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342 citations

"Primary intracranial angiomatoid fi..." refers background in this paper

...The lesion was first recognized as a distinct pathological entity by Enzinger in 1979.(1) Fewer than five cases of primary intracranial presentation have been described in the literature....
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...AFH is a rare, soft tissue neoplasm with a low potential for malignancy, and tumor formation rarely occurs outside somatic soft tissue.(1) Patients have generally been younger adults with ages ranging from 17 to 35, with some older exceptions....
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...The tumor usually occurs in the extremities and can have an aggressive course.(1) Local recurrence is well-recognized in AFH, and aggressive resection to achieve clean surgical margins is the treatment of choice....
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...Patients have generally been younger adults with ages ranging from 17 to 35, with some older exceptions.(1,2) The most consistent finding in AFH is the peritumoral cuff of lymphoplasmacytic infiltrate....
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Journal Article•DOI•

Primary intracerebral angiomatoid fibrous histiocytoma: report of a case with a t(12;22)(q13;q12) causing type 1 fusion of the EWS and ATF-1 genes.

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Christopher Dunham¹, Jerry Hussong, Michael Seiff, John D. Pfeifer, Arie Perry - Show less +1 more•Institutions (1)

Washington University in St. Louis¹

01 Mar 2008-The American Journal of Surgical Pathology

TL;DR: The first pathologically confirmed case of an AFH presenting as an intracerebral primary in a previously healthy 25-year-old man is reported, and 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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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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85 citations

"Primary intracranial angiomatoid fi..." refers methods in this paper

...Imaging showed a large, cystic, heterogeneously enhancing, left occipital mass. Diagnosis of AFH was confirmed by positive genetic analysis via reverse transcriptionpolymerase chain reaction (RT-PCR) for t(12;22)(q13;12), resulting in clear cell sarcoma-like type 1 EWS/ATF-1 gene fusion, a genetic marker that has been linked to AFH.3 Ochalski et al. described a 35-year-old male who presented with right facial weakness.5 His AFH was initially misdiagnosed as a cavernous malformation....
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...The lesion was first recognized as a distinct pathological entity by Enzinger in 1979.1 Fewer than five cases of primary intracranial presentation have been described in the literature.2–5 We report an additional case of AFH in a young woman and review the available literature on AFH....
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...Diagnosis of AFH was confirmed by positive genetic analysis via reverse transcriptionpolymerase chain reaction (RT-PCR) for t(12;22)(q13;12), resulting in clear cell sarcoma-like type 1 EWS/ATF-1 gene fusion, a genetic marker that has been linked to AFH.(3) Ochalski et al....
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Journal Article•DOI•

Intracranial angiomatoid fibrous histiocytoma presenting as recurrent multifocal intraparenchymal hemorrhage.

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Pawel G. Ochalski¹, James T. Edinger¹, Michael B. Horowitz, William R. Stetler, Geoffrey Murdoch¹, Amin B. Kassam, Johnathan A. Engh - Show less +3 more•Institutions (1)

University of Pittsburgh¹

30 Apr 2010-Journal of Neurosurgery

TL;DR: 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, was finally correctly identified when there was a large enough intact resection specimen to reveal the characteristic histological pattern.

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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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46 citations

"Primary intracranial angiomatoid fi..." refers background in this paper

...The correct diagnosis was reached when a resection specimen revealed the characteristic histopathological findings of a fibrous pseudocapsule.(5) In 2015, Hansen et al....
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...described a 35-year-old male who presented with right facial weakness.(5) His AFH was initially misdiagnosed as a cavernous malformation....
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Journal Article•DOI•

Intracranial Angiomatoid Fibrous Histiocytoma: Case Report and Literature Review

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Mohammed Alshareef¹, Zayed Almadidy¹, Tiffany G. Baker¹, Arie Perry², Cynthia T. Welsh¹, William A. Vandergrift¹ - Show less +2 more•Institutions (2)

Medical University of South Carolina¹, University of California, San Francisco²

01 Dec 2016-World Neurosurgery

TL;DR: A rare case of an older patient with a large, petrous apex AFH that was clinically mistaken for a trigeminal nerve schwannoma is presented, and gross total resection of this lesion is preferable.

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30 citations

"Primary intracranial angiomatoid fi..." refers background in this paper

...in a 58-year-old patient with right facial weakness, pain, and numbness.(2) MRI showed a 6....
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...Local recurrence is well-recognized in AFH, and aggressive resection to achieve clean surgical margins is the treatment of choice.(2) Intracranial AFH has been reported in four previous instances....
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...The patient was initially misdiagnosed with a meningioma, but AFH was confirmed when a fluorescence in situ hybridization revealed a gene rearrangement in the Ewing sarcoma breakpoint region 1 (EWSR1).(2) According to the World Health Organization, AFH is a slow growing tumor with a low metastatic potential....
[...]
...Patients have generally been younger adults with ages ranging from 17 to 35, with some older exceptions.(1,2) The most consistent finding in AFH is the peritumoral cuff of lymphoplasmacytic infiltrate....
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Journal Article•DOI•

Primary intracranial angiomatoid fibrous histiocytoma presenting with anaemia and migraine-like headaches and aura as early clinical features.

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Jakob Møller Hansen¹, Vibeke Andrée Larsen¹, David Scheie¹, Arie Perry², Jane Skjøth-Rasmussen¹ - Show less +1 more•Institutions (2)

University of Copenhagen¹, University of California, San Francisco²

21 Apr 2015-Cephalalgia

TL;DR: A 17-year-old female with migraine with aura complained of fatigue and was diagnosed with anemia, and brain MRI showed a bi-lobed extra-axial intracerebral tumor encroaching both parieto-occipital regions, leading to the first report of an intracranial AFH presenting as migraine with visual aura and anemia.

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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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25 citations

"Primary intracranial angiomatoid fi..." refers background or methods in this paper

...reported an intracranial AFH in a 17-year-old female who reported three years of migraine headaches followed by the development of a constant headache.(4) MRI showed a well-delineated bi-lobed extra-axial parieto-occipital tumor....
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...Initial diagnosis of rhabdoid meningioma was changed to AFH based on morphological and immunohistochemical features.(4) The most recent case of intracranial AFH was reported by Alshareef et al....
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