Angiomatoid Fibrous Histiocytoma: Pleomorphic Variant Associated with Multiplication of EWSR1-CREB1 Fusion Gene

Tornóczky, Tamás; Bogner, Barna; Krausz, Thomas; Ottóffy, Gábor; Szuhai, Károly

doi:10.1007/s12253-011-9468-6

Cited by 9 publications

(8 citation statements)

References 15 publications

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“…The same fusion has been shown in both primary AFH and its nodal metastasis in one case . Multiple EWSR1–CREB1 fusion gene copies have been associated with nuclear pleomorphism . The FUS gene can serve as an alternative 5′ partner with ATF1 .…”

Section: Tumours With Ewsr1–creb1 or Ewsr1–atf1 Fusionssupporting

confidence: 59%

“…Multifocal haemorrhage with blood‐filled cysts is a usual feature. Nuclear pleomorphism and increased mitotic activity are occasionally seen, but do not predict outcome . Extension into deep fascia or muscle has been reported to correlate with local recurrence and distant metastasis .…”

Section: Tumours With Ewsr1–creb1 or Ewsr1–atf1 Fusionsmentioning

confidence: 99%

“…165 Multiple EWSR1-CREB1 fusion gene copies have been associated with nuclear pleomorphism. 160 The FUS gene can serve as an alternative 5′ partner with ATF1. 21 MiTF-M and SOX10, although expressed in CCS with EWSR1-ATF1, have not been detected in AFH with this gene fusion.…”

Section: A N G I O M a T O I D F I B R O U S H I S T I O C Y T O M Amentioning

confidence: 99%

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The diversity of soft tissue tumours with EWSR1 gene rearrangements: a review

2013

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Many soft tissue sarcomas have chromosomal translocations with resultant formation of new fusion genes. Among the genes that can be rearranged, the EWSR1 gene has been identified as a partner in a wide variety of clinically and pathologically diverse sarcomas as well as some non-mesenchymal tumours. The former include Ewing sarcoma and similar (Ewing-like) small round cell sarcomas, desmoplastic small round cell tumour, myxoid liposarcoma, extraskeletal myxoid chondrosarcoma, angiomatoid fibrous histiocytoma, clear cell sarcoma of soft tissue and clear cell sarcoma-like tumours of the gastrointestinal tract, primary pulmonary myxoid sarcoma, extrasalivary myoepithelial tumours and sporadic examples of low-grade fibromyxoid sarcoma, sclerosing epithelioid fibrosarcoma and mesothelioma. EWSR1 is a 'promiscuous' gene that can fuse with many different partner genes, but sometimes this results in phenotypically identical tumours. EWSR1 can, conversely, partner with the same genes in morphologically and behaviourally different neoplasms. This paper reviews the diversity of the several soft tissue tumour types that are associated with rearrangement of the EWSR1 gene.

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Section: Tumours With Ewsr1–creb1 or Ewsr1–atf1 Fusionssupporting

confidence: 59%

Section: Tumours With Ewsr1–creb1 or Ewsr1–atf1 Fusionsmentioning

confidence: 99%

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The diversity of soft tissue tumours with EWSR1 gene rearrangements: a review

2013

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“…The presence of amplification of a fusion gene has been noted in other translocation-associated tumors. 19 , 20 , 21 , 22 Collection and study of additional fibrolamellar carcinomas with amplification of the DNAJB1–PRKACA fusion will be needed to determine the significance of this finding. The second unusual pattern resulted from two genetic events; (i) formation of the fusion gene and (ii) loss of the PRKACA locus on the uninvolved allele.…”

Section: Discussionmentioning

confidence: 99%

Molecular testing for the clinical diagnosis of fibrolamellar carcinoma

et al. 2018

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Fibrolamellar carcinoma has a distinctive morphology and immunophenotype, including cytokeratin 7 and CD68 co-expression. Despite the distinct findings, accurate diagnosis of fibrolamellar carcinoma continues to be a challenge. Recently, fibrolamellar carcinomas were found to harbor a characteristic somatic gene fusion, DNAJB1–PRKACA. A break-apart fluorescence in situ hybridization (FISH) assay was designed to detect this fusion event and to examine its diagnostic performance in a large, multicenter, multinational study. Cases initially classified as fibrolamellar carcinoma based on histological features were reviewed from 124 patients. Upon central review, 104 of the 124 cases were classified histologically as typical of fibrolamellar carcinoma, 12 cases as ‘possible fibrolamellar carcinoma’ and 8 cases as ‘unlikely to be fibrolamellar carcinoma’. PRKACA FISH was positive for rearrangement in 102 of 103 (99%) typical fibrolamellar carcinomas, 9 of 12 ‘possible fibrolamellar carcinomas’ and 0 of 8 cases ‘unlikely to be fibrolamellar carcinomas’. Within the morphologically typical group of fibrolamellar carcinomas, two tumors with unusual FISH patterns were also identified. Both cases had the fusion gene DNAJB1–PRKACA, but one also had amplification of the fusion gene and one had heterozygous deletion of the normal PRKACA locus. In addition, 88 conventional hepatocellular carcinomas were evaluated with PRKACA FISH and all were negative. These findings demonstrate that FISH for the PRKACA rearrangement is a clinically useful tool to confirm the diagnosis of fibrolamellar carcinoma, with high sensitivity and specificity. A diagnosis of fibrolamellar carcinoma is more accurate when based on morphology plus confirmatory testing than when based on morphology alone.

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“…Notably, the diagnosis of AFH in both of these aggressive cases was confirmed by FISH on a molecular level for the presence of rearrangements of both EWSR1 and CREB1. Tamas et al reported that the influence of the EWSR1-CREB1 fusion gene on prognosis was not clear [24]. In the AFH cases in which the EWSR1-CREB1 fusion gene was detected, only one recurrence case was reported [16]; there were no reported deaths.…”

Section: Discussionmentioning

confidence: 99%

Angiomatoid fibrous histiocytoma: a series of seven cases including genetically confirmed aggressive cases and a literature review

Saitô

Kobayashi²,

Yoshida

et al. 2017

BMC Musculoskelet Disord

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BackgroundAngiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of intermediate biologic potential. Because of its rarity and nonspecific radiological and diverse pathological findings, AFH is often clinically misdiagnosed. However, few clinical reports have described this tumor. As reported herein, we analyzed the clinical and radiological features and clinical outcomes of AFH.MethodsWe retrospectively reviewed the medical records of seven cases histopathologically diagnosed as AFH. We examined clinical features, MRI findings, histopathological diagnoses, treatments, and outcomes.ResultsThese seven cases comprised five male and two female patients with ages ranging from 8 to 50 years old. The primary locations included upper extremities in 2, lower extremities in 4, and the inguinal region in one patient. Of the tumors, 4 occurred in subcutaneous tissues and 3 occurred in deep tissues. No cases were diagnosed as AFH from MRI and needle biopsy results. All cases were diagnosed histopathologically after excision. After treatment, 2 patients (29%) had tumor recurrence and metastasis, one of whom died from disease progression. These 2 aggressive cases involved both EWSR1 and CREB1 gene rearrangements as determined by FISH. The other patients were alive and well without recurrence or metastasis.ConclusionAFH is a rare tumor that is difficult to diagnose. Therefore, it tends to be misdiagnosed and to be treated inadequately by referring physicians. Surgeons must therefore be mindful of the presence of AFH, learn about appropriate treatment necessary for this tumor, and conduct careful follow-up because AFH can engender poor outcomes.

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Angiomatoid Fibrous Histiocytoma: Pleomorphic Variant Associated with Multiplication of EWSR1-CREB1 Fusion Gene

Cited by 9 publications

References 15 publications

The diversity of soft tissue tumours with EWSR1 gene rearrangements: a review

The diversity of soft tissue tumours with EWSR1 gene rearrangements: a review

Molecular testing for the clinical diagnosis of fibrolamellar carcinoma

Angiomatoid fibrous histiocytoma: a series of seven cases including genetically confirmed aggressive cases and a literature review

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