Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma

Vizcaíno, M. Adelita; Giannini, Caterina; Chang, Howard T.; Kipp, Benjamin R.; Fritchie, Karen; Vaubel, Rachael A.

doi:10.1007/s10014-020-00389-5

Cited by 9 publications

(12 citation statements)

References 40 publications

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“…Moreover, our cases presented ultrastructural (presence of junction‐type desmosomes, zonula occludens , zonula adherens ) and histopathological (absence of complete diagnostic triad) differences from AFH of the soft tissue ( 45 , 46 , 47 , 48 ). These tumors shared with meningiomas some histopathological (intranuclear cytoplasmic inclusions described in our cases and whorls described in reported cases) ( 38 , 49 ), radiological (tumor locations), and ultrastructural (junctions encountered in arachnoidal cells from the leptomeninges) characteristics. Furthermore, their epigenetic proximity with meningiomas can suggest a leptomeningeal cell origin for this new tumoral entity.…”

Section: Discussionsupporting

confidence: 85%

An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB‐fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts

et al. 2021

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FET:CREB fusions have been described in a variety of tumors from various phenotypes. Recently, these fusion transcripts were reported in intracranial tumors, variably named intracranial mesenchymal myxoid tumors or angiomatoid fibrous histiocytomas. Controversy remains concerning the terminology for these tumors. Here, we report 11 cases of central nervous system mesenchymal tumors with proven FET:CREB fusion. Most DNA methylation profiles were not classifiable using the Heidelberg Brain Tumor or Sarcoma Classifier (v11b4/v12.2). However, by using unsupervised t-SNE and hierarchical clustering analyses, six of the cases constituted a distinct cluster. The remaining four tumors showed no obvious relation to any of the other referenced classes but were close to the clusters of extra-CNS angiomatoid fibrous histiocytomas (n = 1), clear cell sarcomas (n = 1), or solitary fibrous tumors (n = 2). Our findings confirm that intracranial FET:CREB-fused tumors do not represent a single molecular tumor entity, although most samples clustered close to each other, indicating the existence of a distinct epigenetic group that could potentially be partially masked by the low number of cases included.Further analyses are needed to characterize intracranial FET:CREB fuseddefined tumors in more detail.

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Section: Discussionsupporting

confidence: 85%

An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB‐fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts

et al. 2021

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“…In particular, myxoid AFH occurring in the CNS should be differentiated from choroid meningioma because of the histological and immunohistochemical overlap features, such as the detection of EMA immunoreactivity 21 . The rhabdoif subtype of AFH shows diffuse sheet pattern of desmin‐positive rhabdoid or epithelioid cells with little stroma 21,23 . Rarely marked nuclear pleomorphism with giant hyperchromatic nuclei, high mitotic rates (up to 23/10 HPFs) or focal necrosis have been reported in any subtype of AFHs 29 .…”

Section: Discussionmentioning

confidence: 99%

“…The precise line of differentiation and etiology has not yet been clarified; therefore, this tumor still belongs to the unknown histogenesis category 7,8 . AFH has been reported in the brain under the name of AFH 6,9–14 or intracranial myxoid mesenchymal tumor 15–23 . Classic, 22 myxoid, 12,15,16 and rhabdoid 23 subtypes were suggested.…”

Section: Introductionmentioning

confidence: 99%

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Brain parenchymal angiomatoid fibrous histiocytoma and spinal myxoid mesenchymal tumor with FET: CREB fusion, a spectrum of the same tumor type

Kim

Park

et al. 2022

Neuropathology

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Angiomatoid fibrous histiocytomas (AFH) is a rare soft tissue tumor of intermediate malignant potential, and its histology is diverse. It can occur in several organs including intracranial and soft tissues. Here, we report two cases of brain parenchymal classic AFH and spinal extramedullary myxoid mesenchymal tumor with clinicopathological and molecular investigations by next‐generation sequencing and a comprehensive review. The current brain parenchymal AFH occurred in a 79‐year‐old woman, and the spinal myxoid mesenchymal tumor arose in the thoracic spine of a 28‐year‐old woman; both harbored FET:CREB fusion. The current brain parenchymal AFH has not recurred for 15‐months follow‐up period, but the spinal myxoid mesenchymal tumor recurred three times and metastasized to T8 spine level for 30‐months follow‐up period. We reviewed 40 reported cases of central nervous system (CNS) AFHs/myxoid mesenchymal tumors including our two cases to identify clinicopathological features and biological behaviors. They occur with a slight female predominance (M:F = 1:1.7) in children and young adults (median age: 17 years; range: 4–79 years old). Approximately 80% of CNS AFHs were younger than 30 year. Most of them were dura‐based and were not just intracranial tumors as they occurred anywhere in the CNS including spinal dura. EWSR1 rearrangement was the most common driver (98%), including FET:CREB (33%), EWSR1:ATF1 (30%), and EWSR1:CREM (27%) fusions, but FUS:CREM fusion (2%) was also present. During the follow‐up period (median: 27 months), 43% (17/40) of CNS AFHs recurred between two months and 11 years, and multiple recurrences were also observed. One case showed metastases to the lymph nodes and vertebrae, and among 11 cases that resulted in death, four cases provided available clinical data. Because these tumors are identical to soft tissue AFH or primary pulmonary myxoid sarcoma with an FET:CREB fusion in morphological and immunohistochemical spectra, the authors propose incorporating the two tumor terms into one.

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“…In previous studies, the vast majority of intracranial mesenchymal tumors with FET:CREB fusions were reported to be negative for cytokeratin. 3,4,10,14,[16][17][18]21,27 However, a few recent studies showed that a small subset of these tumors were positive for cytokeratin, 19,28,29 indicating that cytokeratin expression does not necessarily exclude the diagnosis of IMMT/intracranial AFH. Furthermore, we investigated the cytokeratin subtypes expressed in the present tumor and found diffuse staining for CK8/18.…”

Section: Discussionmentioning

confidence: 99%

A case of intracranial myxoid mesenchymal tumor with EWSR1:CREM fusion in an adult female: Extensive immunohistochemical evaluation

et al. 2021

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Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma

Cited by 9 publications

References 40 publications

An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB‐fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts

An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB‐fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts

Brain parenchymal angiomatoid fibrous histiocytoma and spinal myxoid mesenchymal tumor with FET: CREB fusion, a spectrum of the same tumor type

A case of intracranial myxoid mesenchymal tumor with EWSR1:CREM fusion in an adult female: Extensive immunohistochemical evaluation

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