Soft Tissues: Angiomatoid fibrous histiocytoma with t(2;22)(q34;q12) EWSR1/CREB1
2009-12-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Epidemiology
Twenty two cases of angiomatoid fibrous histiocytoma with a (2;22)(q34;q12) have so far been described; there were 13 male and 9 female patients, aged 16 years (median, range 3-38) (Antonescu et al., 2007; Rossi et al., 2007; Shao et al., 2009).
Pathology
Cases presented either a spindle or a mixed spindle and small cell morphology; there was no case of pure small cell morphology; one case showed pleomorphism; however, the prognosis in this later case has been as good as that of other cases.
Cytogenetics
Cytogenetics morphological
The t(2;22)(q34;q12) appears to be the most frequent anomaly in angiomatoid fibrous histiocytoma, while the t(12;22)(q13;q12) (5 EWSR1 - 3 ATF1), and the t(12;16)(q13;p11) (5 FUS- 3 ATF1) are rarer.
Genes Involved and Proteins
Gene name
CREB1 (cAMP responsive element binding protein 1)
Location
2q33.3
Protein description
Contains a KID domain (kinase inductible domain), a basic motif (DNA binding) and a leucine-zipper for dimerization, like ATF1. Stimulates transcription by binding the cAMP response element TGACGTCA (CRE). Transcription factor.
Gene name
EWSR1 (Ewing sarcoma breakpoint region 1)
Location
22q12.2
Protein description
From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats, 3 arginine/glycine rich domains (RGG regions), a RNA recognition motif, and a RanBP2 type Zinc finger. Role in transcriptional regulation for specific genes and in mRNA splicing.
Result of the chromosomal anomaly
Description
5 EWSR1 - 3 CREB1. EWSR1 exon 7 is fused in frame to CREB1 exon 7 in all cases so far studied.
Description
Fusion of the N terminal transactivation domain of EWSR1 to the DNA binding domain of CREB1.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32997853 | 2021 | The spectrum of rare central nervous system (CNS) tumors with EWSR1-non-ETS fusions: experience from three pediatric institutions with review of the literature. | 91 |
| 30775024 | 2019 | Mesenchymal tumors of the lung: diagnostic pathology, molecular pathogenesis, and identified biomarkers. | 83 |
| 38929464 | 2024 | Intestinal Clear Cell Sarcoma-A Case Presentation of an Extremely Rare Tumor and Literature Review. | 61 |
| 35200608 | 2022 | A Case Series of Metastatic Malignant Gastrointestinal Neuroectodermal Tumors and Comprehensive Genomic Profiling Analysis of 20 Cases. | 55 |
| 36959380 | 2023 | Functional genomics of human clear cell sarcoma: genomic, transcriptomic and chemical biology landscape for clear cell sarcoma. | 48 |
| 38421462 | 2024 | Primary pulmonary myxoid sarcoma with EWSR1::CREB1 fusion: a literature review. | 46 |
| 38291529 | 2024 | Potential prognostic determinants for FET::CREB fusion-positive intracranial mesenchymal tumor. | 45 |
| 33314685 | 2021 | Distinct clinicopathological features of pulmonary primary angiomatoid fibrous histiocytoma: A report of four new cases and review of the literature. | 45 |
| 36690805 | 2023 | Gene fusions are frequent in ACTH-secreting neuroendocrine neoplasms of the pancreas, but not in their non-pancreatic counterparts. | 44 |
| 34193943 | 2021 | Generation of human embryonic stem cell models to exploit the EWSR1-CREB fusion promiscuity as a common pathway of transformation in human tumors. | 43 |
| 28009602 | 2017 | EWSR1 Fusions With CREB Family Transcription Factors Define a Novel Myxoid Mesenchymal Tumor With Predilection for Intracranial Location. | 42 |
| 34771600 | 2021 | Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas. | 41 |
| 33141488 | 2021 | Intracranial mesenchymal tumor with FET-CREB fusion-A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms. | 39 |
| 34156976 | 2021 | The clear cell sarcoma functional genomic landscape. | 39 |
| 38074516 | 2023 | A Clear Cell Sarcoma Case: A Diagnostic and Treatment Challenge, with a Promising Response to Trabectedin. | 37 |
| 39845329 | 2024 | Angiomatoid fibrous histiocytoma with EWSR1-CREB1 gene fusion occurs in lungs and ribs with systemic multiple metastases: a case report and review of the literature. | 36 |
| 33616852 | 2021 | Clear Cell Odontogenic Carcinoma: First Report of Novel EWSR1-CREM Fusion Gene in Case of Long-Term Misdiagnosis. | 35 |
| 23320232 | 2012 | Subcutaneous angiomatoid fibrous histiocytoma mimicking metastatic melanoma. | 32 |
| 38885476 | 2024 | Modeling Extraordinary Response Through Targeting Secondary Alterations in Fusion-Associated Sarcoma. | 31 |
| 28281318 | 2018 | Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity? | 29 |
| 35693189 | 2022 | Clinicopathological and Genomic Features of Pediatric Intracranial Myxoid Mesenchymal Tumor with both of EWSR1-CREM Gene Fusion and MAP3K13 Mutation: A Case Report and Comparison with Adult Cases in the Literature. | 29 |
| 38961422 | 2024 | Primary pulmonary myxoid sarcoma in the interlobar fissure of the left lung lobe: a case report. | 28 |
| 34055346 | 2021 | Intracranial non-myxoid angiomatoid fibrous histiocytoma with EWSR1-CREB1 transcript fusion treated with doxorubicin: A case report. | 27 |
| 34821426 | 2022 | Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas. | 27 |
| 24715928 | 2014 | Clear cell sarcoma-like tumor of the gastrointestinal tract, presenting as a second malignancy after childhood hepatoblastoma. | 24 |
| 32039736 | 2020 | Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature. | 20 |
| 27764830 | 2016 | Activity of c-Met/ALK Inhibitor Crizotinib and Multi-Kinase VEGF Inhibitor Pazopanib in Metastatic Gastrointestinal Neuroectodermal Tumor Harboring EWSR1-CREB1 Fusion. | 20 |
| 30219084 | 2018 | Detection of specific gene rearrangements by fluorescence in situ hybridization in 16 cases of clear cell sarcoma of soft tissue and 6 cases of clear cell sarcoma-like gastrointestinal tumor. | 18 |
| 30047065 | 2019 | Clear Cell Odontogenic Carcinoma: Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1. | 17 |
| 36120228 | 2022 | An Incidental Malignant Gastrointestinal Neuroectodermal Tumor of the Stomach: A Rare Case Report and a Literature Review. | 16 |
| 34631187 | 2021 | Scapular Angiomatoid Fibrous Histiocytoma with EWSR1-CREB1 Fusion in an Adult Patient. | 14 |
| 33335731 | 2021 | Malignant gastrointestinal neuroectodermal tumor with BRAF mutation and a history of malignant melanoma: A case report. | 13 |
| 31565180 | 2019 | Difficult diagnosis of Angiomatoid Fibrous Histiocytoma of the leg mimicking a benign condition. | 13 |
| 36359460 | 2022 | Angiomatoid Fibrous Histiocytoma (AFH) of the Right Arm: An Exceptional Case with Pulmonary Metastasis and Confirmatory EWSR1::CREB1 Translocation. | 12 |
| 33713576 | 2021 | Angiomatoid fibrosis histiocytoma in the pulmonary artery: A case report. | 9 |
| 28722216 | 2017 | Primary pulmonary myxoid sarcoma located in interlobar fissure without parenchymal invasion. | 6 |
| 22510762 | 2012 | Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status. | 0 |
| 38501690 | 2024 | Molecularly Defined Thoracic Neoplasms. | 0 |
| 18094413 | 2007 | EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma. | 0 |
| 19561568 | 2009 | Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts). | 0 |
| 17724745 | 2007 | EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. | 0 |
| 32215804 | 2020 | Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 gene fusion: a case report and literature review. | 0 |
| 33080563 | 2020 | Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 fusion. | 0 |
| 23252871 | 2012 | Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion, resembling extraskeletal myxoid chondrosarcoma: Case report with a review of Literature. | 0 |
| 36323546 | 2022 | [Intracranial mesenchymal tumors with EWSR1-CREB1 fusion-positive: a clinicopathological study of three cases]. | 0 |
| 36934861 | 2023 | Extraenteric Malignant Gastrointestinal Neuroectodermal Tumor-A Clinicopathologic and Molecular Genetic Study of 11 Cases. | 0 |
| 35568279 | 2022 | Durable response to crizotinib in metastatic angiomatoid fibrous histiocytoma with EWSR1-CREB1 fusion and ALK overexpression. | 0 |
| 25927151 | 2015 | Angiomatoid fibrous histiocytoma: the current status of pathology and genetics. | 0 |
| 25724038 | 2015 | Clear cell sarcoma-like tumor of the gastrointestinal tract: an evolving entity. | 0 |
| 30819530 | 2019 | Paraneoplastic disorders associated with miscellaneous neoplasms with focus on selected soft tissue and Undifferentiated/ rhabdoid malignancies. | 0 |
| 38591905 | 2024 | [Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion]. | 0 |
| 25134518 | 2014 | Primary pulmonary myxoid sarcomas with EWSR1-CREB1 translocation might originate from primitive peribronchial mesenchymal cells undergoing (myo)fibroblastic differentiation. | 0 |
| 38521373 | 2024 | Back to the future! Selected bone and soft tissue neoplasms with shared genetic alterations but differing morphological and immunohistochemical phenotypes. | 0 |
| 34049318 | 2022 | Cytokeratin-positive Malignant Tumor in the Abdomen With EWSR1/FUS-CREB Fusion: A Clinicopathologic Study of 8 Cases. | 0 |
| 21997693 | 2011 | Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a new tumor entity. | 0 |
| 24378390 | 2014 | Promiscuous genes involved in recurrent chromosomal translocations in soft tissue tumours. | 0 |
| 22588066 | 2012 | Endobronchial pulmonary angiomatoid fibrous histiocytoma: two cases with EWSR1-CREB1 and EWSR1-ATF1 fusions. | 0 |
| 35152636 | 2022 | [Intracranial myxoid mesenchymal tumors with EWSR1-CREB1 fusion: report of a case]. | 0 |
| 38604870 | 2024 | A case of primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion. | 0 |
| 32632473 | 2021 | Myxoid mesenchymal intraventricular brain tumour with EWSR1-CREB1 gene fusion in an adult woman. | 0 |
| 28449608 | 2017 | Primary Pulmonary Myxoid Sarcoma: A Newly Described Entity-Report of a Case and Review of the Literature. | 0 |
| 33455694 | 2021 | [Primary pulmonary myxoid sarcoma associated with translocation EWSR1-CREB1 and locorregional micrometastases]. | 0 |
| 25804255 | 2015 | Angiomatoid fibrous histiocytoma: comparison of fluorescence in situ hybridization and reverse transcription polymerase chain reaction as adjunct diagnostic modalities. | 0 |
| 29970252 | 2018 | Clear cell sarcoma of the gastrointestinal tract and malignant gastrointestinal neuroectodermal tumour: distinct or related entities? A review. | 0 |
| 29932283 | 2018 | Therapeutic response of metastatic angiomatoid fibrous histiocytoma carrying EWSR1-CREB1 fusion to the interleukin-6 receptor antibody tocilizumab. | 0 |
| 35466725 | 2023 | Primary Pulmonary Myxoid Sarcoma with EWSR1::ATF1 Fusion: A Case Report. | 0 |
| 37555501 | 2023 | Hyalinising clear cell carcinoma with a novel fusion gene: Insights into the diagnosis. | 0 |
| 37057373 | 2023 | Clear cell tumor with melanocytic differentiation and MITF::CREM translocation. | 0 |
| 37879148 | 2023 | Clear cell sarcoma in the post-molar area: Report of an ultra-rare case and literature review of oral clear cell sarcoma. | 0 |
| 39648206 | 2024 | Malignant epithelioid tumors with EWSR1::CREB fusion involving the kidney: a report of two cases. | 0 |
| 34929603 | 2022 | Myoepithelial and oral intracranial myxoid mesenchymal tumor-like neoplasms as diagnostic considerations of the ever-expanding extracranial myxocollagenous tumors harboring FET-CREB fusions. | 0 |
| 34057377 | 2022 | CRTC1-SS18 Fusion Sarcoma With Aberrant Anaplastic Lymphoma Kinase Expression. | 0 |
| 30317742 | 2018 | [Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: report of a case]. | 0 |
| 37248556 | 2024 | Malignant Gastrointestinal Neuroectodermal Tumor of Small Intestine Showing DOG1 Expression: A Case Report and Review of Literature. | 0 |
| 22038502 | 2012 | Angiomatoid fibrous histiocytoma: pleomorphic variant associated with multiplication of EWSR1-CREB1 fusion gene. | 0 |
| 27166030 | 2016 | Angiomatoid fibrous histiocytoma: Clinicopathological spectrum of five cases, including EWSR1-CREB1 positive result in a single case. | 0 |
| 36308208 | 2022 | Angiomatoid fibrous histiocytoma: Report of two cases, initially construed as sarcoma with unusual clinico-pathological features. | 0 |
| 26165403 | 2015 | Paraneoplastic Syndrome of Angiomatoid Fibrous Histiocytoma May Be Caused by EWSR1-CREB1 Fusion-induced Excessive Interleukin-6 Production. | 0 |
| 30326150 | 2019 | Intraluminal EWSR1-CREB1 gene rearranged, low-grade myxoid sarcoma of the pulmonary artery resembling extraskeletal myxoid chondrosarcoma (EMC). | 0 |
| 19801966 | 2010 | Utility of FISH in the diagnosis of angiomatoid fibrous histiocytoma: a series of 18 cases. | 0 |
| 31567275 | 2020 | SOX9 Immunohistochemistry in the Distinction of Angiomatoid Fibrous Histiocytoma From Histologic Mimics: Diagnostic Utility and Pitfalls. | 0 |
| 36318291 | 2023 | Retroperitoneal malignant extra-gastrointestinal neuroectodermal tumor with EWSR1::CREM fusion and IL-6-related systemic inflammatory symptoms: a case report. | 0 |
| 24043718 | 2014 | Angiomatoid fibrous histiocytoma: clinicopathological and molecular characterisation with emphasis on variant histomorphology. | 0 |
| 31305268 | 2019 | Expanding the Phenotypic Spectrum of Mesenchymal Tumors Harboring the EWSR1-CREM Fusion. | 0 |
| 37422888 | 2023 | [Rare case of primary pulmonary myxoid sarcoma]. | 0 |
| 18300804 | 2008 | Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases. | 0 |
| 23199525 | 2013 | Metastatic angiomatoid fibrous histiocytoma of the scalp, with EWSR1-CREB1 gene fusions in primary tumor and nodal metastasis. | 0 |
| 33462743 | 2021 | Clear cell tumor with melanocytic differentiation and MITF-CREM translocation: a novel entity similar to clear cell sarcoma. | 0 |
| 33005982 | 2021 | Clear cell sarcoma-like/malignant gastrointestinal neuroectodermal tumor of the tongue: a clinicopathologic and molecular case report. | 0 |
| 32310859 | 2020 | Angiomatoid Fibrous Histiocytoma With ALK Expression in an Unusual Location and Age Group. | 0 |
| 30554833 | 2019 | [Clear cell sarcoma or gastrointestinal neuroectodermal tumor (GNET) of the tongue? Case report and review of the literature of an extremely rare tumor localization]. | 0 |
| 27637157 | 2016 | 'Pure' spindle cell variant of angiomatoid fibrous histiocytoma, lacking classic histologic features. | 0 |
| 34792784 | 2022 | Clinical, pathological, and genetic profile of clear cell sarcoma-like tumour of jejunum: report of a rare aggressive tumour of small bowel. | 0 |
| 22406360 | 2012 | Identification of biomarkers to distinguish clear cell sarcoma from malignant melanoma. | 0 |
| 22886438 | 2012 | Clear cell sarcoma expressing a novel chimerical transcript EWSR1 exon 7/ATF1 exon 6. | 0 |
| 32773530 | 2020 | Primary Pulmonary Myxoid Sarcoma and Myxoid Angiomatoid Fibrous Histiocytoma: A Unifying Continuum With Shared and Distinct Features. | 0 |
| 29491075 | 2018 | Clear Cell Sarcoma-like Tumor of the Gastrointestinal Tract: Clinical Outcome and Pathologic Features of a Molecularly Characterized Tertiary Center Case Series. | 0 |
| 29924341 | 2018 | Molecular and Clinicopathologic Heterogeneity of Intracranial Tumors Mimicking Extraskeletal Myxoid Chondrosarcoma. | 0 |
| 23953591 | 2013 | A rare case of clear cell sarcoma with 4 types of EWSR1-ATF1 fusions detected not in primary site but in metastatic site. | 0 |
| 26163185 | 2015 | An unusual association of malignant gastrointestinal neuroectodermal tumor (clear cell sarcoma-like) and Ewing sarcoma. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17724745 | 2007 | EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. | Antonescu CR et al |
| 18094413 | 2007 | EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma. | Rossi S et al |
| 18666823 | 2009 | Angiomatoid fibrous histiocytoma with t(2;22)(q33;q12.2) and EWSR1 gene rearrangement. | Shao L et al |
Citation
Jean-Loup Huret
Soft Tissues: Angiomatoid fibrous histiocytoma with t(2;22)(q34;q12) EWSR1/CREB1
Atlas Genet Cytogenet Oncol Haematol. 2009-12-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/5670/soft-tissues-angiomatoid-fibrous-histiocytoma-with-t(2
