Intracranial non‑myxoid angiomatoid fibrous histiocytoma with <em>EWSR1‑CREB1</em> transcript fusion treated with doxorubicin: A case report

Garnier,Louis; Fenouil,Tanguy; Pissaloux,Daniel; Ameli,Roxana; Ducray,François; Meyronet,David; Honnorat,Jerome

doi:10.3892/mco.2021.2293

Intracranial non‑myxoid angiomatoid fibrous histiocytoma with EWSR1‑CREB1 transcript fusion treated with doxorubicin: A case report

Authors:
- Louis Garnier
- Tanguy Fenouil
- Daniel Pissaloux
- Roxana Ameli
- François Ducray
- David Meyronet
- Jerome Honnorat
View Affiliations

Affiliations: Department of Neuro‑Oncology, East Group Hospital, Hospices Civils de Lyon, 69677 Lyon, France, Department of Pathology, East Group Hospital, Hospices Civils de Lyon, 69677 Lyon, France, Department of Clinical Sciences, Claude Bernard Lyon 1 University, INSERM U1052, CNRS UMR5286, Léon Bérard Center, Cancer Research Center of Lyon, 69677 Lyon, France, Department of Neuro‑Radiology, East Group Hospital, Hospices Civils de Lyon, 69677 Lyon, France, Department of Clinical Sciences, Claude Bernard Lyon 1 University, 69008 Lyon, France
Published online on: May 9, 2021 https://doi.org/10.3892/mco.2021.2293
Article Number: 131
Copyright: © Garnier et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that has only been reported in the central nervous system in case reports. After surgery, patients exhibit tumor recurrence. Pathological diagnosis of AHF remains difficult, especially in sites other than skin. AFH can harbor characteristic translocations implying that the Ewing sarcoma breakpoint region 1 gene (EWSR1) fuses with the transcription factor cyclic AMP response element binding (CREB) family genes. Doxorubicin is a chemotherapy that has previously been used successfully in two metastatic soft tissue AFH cases but never in intracranial AFH. The present report describes a case of an adult with a progressive classical intracranial non‑myxoid AFH with ESWR1‑CREB1 transcript fusion 4 years after surgery. The patient was treated with doxorubicin as a single agent chemotherapy. This treatment resulted in a prolonged stable disease 15 months after treatment discontinuation. This is the first reported case of a treatment with doxorubicin in an adult with progressive intracranial AFH with ESWR1‑CREB1 transcript fusion which was sustained after treatment discontinuation.

View Figures

View References

1	Lemaigre FP, Ace CI and Green MR: The cAMP response element binding protein, CREB, is a potent inhibitor of diverse transcriptional activators. Nucleic Acids Res. 21:2907–2911. 1993.PubMed/NCBI View Article : Google Scholar
2	Gonzalez GA and Montminy MR: Cyclic AMP stimulates somatostatin gene transcription by phosphorylation of CREB at serine 133. Cell. 59:675–680. 1989.PubMed/NCBI View Article : Google Scholar
3	Thway K and Fisher C: Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: The current status. Am J Surg Pathol. 36(11)2012.PubMed/NCBI View Article : Google Scholar
4	Enzinger FM: Angiomatoid malignant fibrous histiocytoma. A distinct fibrohistiocytic tumor of children and young adults simulating a vascular neoplasm. Cancer. 44:2147–2157. 1979.PubMed/NCBI View Article : Google Scholar
5	Antonescu CR and Rossi S: WHO Classification of Tumours of Soft Tissue and Bone. Vol 5. 4th edition. Fletcher CD, Bridge JA, Hogendoorn PC and Mertens F (eds). IARC, Lyon, pp204-205, 2013.
6	Saito K, Kobayashi E, Yoshida A, Araki Y, Kubota D, Tanzawa Y, Kawai A, Yanagawa T, Takagishi K and Chuman H: Angiomatoid fibrous histiocytoma: A series of seven cases including genetically confirmed aggressive cases and a literature review. BMC Musculoskelet Disord. 18(31)2017.PubMed/NCBI View Article : Google Scholar
7	Fanburg-Smith JC and Miettinen M: Angiomatoid ‘malignant’ fibrous histiocytoma: A clinicopathologic study of 158 cases and further exploration of the myoid phenotype. Hum Pathol. 30:1336–1343. 1999.PubMed/NCBI View Article : Google Scholar
8	Huret JL: EWSR1 (Ewing sarcoma breakpoint region 1). Atlas Genet Cytogenet Oncol Haematol. 15:395–407. 2011.
9	Dunham C, Hussong J, Seiff M, Pfeifer J and Perry A: 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. Am J Surg Pathol. 32:478–484. 2008.PubMed/NCBI View Article : Google Scholar
10	Ochalski PG, Edinger JT, Horowitz MB, Stetler WR, Murdoch GH, Kassam AB and Engh JA: Intracranial angiomatoid fibrous histiocytoma presenting as recurrent multifocal intraparenchymal hemorrhage. J Neurosurg. 112:978–982. 2010.PubMed/NCBI View Article : Google Scholar
11	Hansen JM, Larsen VA, Scheie D, Perry A and Skjøth-Rasmussen J: Primary intracranial angiomatoid fibrous histiocytoma presenting with anaemia and migraine-like headaches and aura as early clinical features. Cephalalgia. 35:1334–1336. 2015.PubMed/NCBI View Article : Google Scholar
12	Alshareef MA, Almadidy Z, Baker T, Perry A, Welsh CT and Vandergrift WA III: Intracranial angiomatoid fibrous histiocytoma: Case report and literature review. World Neurosurg. 96:403–409. 2016.PubMed/NCBI View Article : Google Scholar
13	Konstantinidis A, Cheesman E, O'Sullivan J, Pavaine J, Avula S, Pizer B and Kilday JP: Intracranial angiomatoid fibrous histiocytoma with EWSR1-CREB family fusions: A report of 2 pediatric cases. World Neurosurg. 126:113–119. 2019.PubMed/NCBI View Article : Google Scholar
14	Kao YC, Sung YS, Zhang L, Chen CL, Vaiyapuri S, Rosenblum MK and Antonescu CR: EWSR1 fusions with CREB family transcription factors define a novel myxoid mesenchymal tumor with predilection for intracranial location. Am J Surg Pathol. 41:482–490. 2017.PubMed/NCBI View Article : Google Scholar
15	Gareton A, Pierron G, Mokhtari K, Tran S, Tauziède-Espariat A, Pallud J, Louvel G, Meary E, Capelle L, Chrétien F and Varlet P: ESWR1-CREM fusion in an intracranial myxoid angiomatoid fibrous histiocytoma-like tumor: A case report and literature review. J Neuropathol Exp Neurol. 77:537–541. 2018.PubMed/NCBI View Article : Google Scholar
16	Sciot R, Jacobs S, Calenbergh FV, Demaerel P, Wozniak A and Debiec-Rychter M: Primary myxoid mesenchymal tumour with intracranial location: Report of a case with a EWSR1-ATF1 fusion. Histopathology. 72:880–883. 2018.PubMed/NCBI View Article : Google Scholar
17	Bale TA, Oviedo A, Kozakewich H, Giannini C, Davineni PK, Ligon K and Alexandrescu S: Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions: Myxoid variant of angiomatoid fibrous histiocytoma or novel entity? Brain Pathol. 28:183–191. 2018.PubMed/NCBI View Article : Google Scholar
18	Ghanbari N, Lam A, Wycoco V and Lee G: Intracranial myxoid variant of angiomatoid fibrous histiocytoma: A case report and literature review. Cureus. 11(e4261)2019.PubMed/NCBI View Article : Google Scholar
19	Gunness VR, Munoz I, González-López P, Alshafai N, Mikalkova A and Spears J: Intracranial angiomatoid fibrous histiocytoma with Hodgkin lymphoma. Med J Malaysia. 74:234–236. 2019.PubMed/NCBI
20	White MD, McDowell MM, Pearce TM, Bukowinski AJ and Greene S: Intracranial Myxoid mesenchymal tumor with rare EWSR1-CREM translocation. Pediatr Neurosurg. 54:347–353. 2019.PubMed/NCBI View Article : Google Scholar
21	Ballester LY, Meis JM, Lazar AJ, Prabhu SS, Hoang KB, Leeds NE and Fuller GN: Intracranial myxoid mesenchymal tumor with EWSR1-ATF1 Fusion. J Neuropathol Exp Neurol. 79:347–351. 2020.PubMed/NCBI View Article : Google Scholar
22	Komatsu M, Yoshida A, Tanaka K, Matsuo K, Sasayama T, Kojita Y, Kanda T, Kodama Y, Itoh T and Hirose T: Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 gene fusion: A case report and literature review. Brain Tumor Pathol. 37:76–80. 2020.PubMed/NCBI View Article : Google Scholar
23	Spatz M, Nussbaum ES, Lyons L, Greenberg S, Kallmes KM and Nussbaum LA: Primary intracranial angiomatoid fibrous histiocytoma: A case report and literature review. Br J Neurosurg: Mar 15, 2018 (Epub ahead of print). doi: 10.1080/02688697.2018.1451823.
24	Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher CD and Ladanyi M: EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer. 46:1051–1060. 2007.PubMed/NCBI View Article : Google Scholar
25	Thway K and Fisher C: Angiomatoid fibrous histiocytoma: The current status of pathology and genetics. Arch Pathol Lab Med. 139:674–682. 2015.PubMed/NCBI View Article : Google Scholar
26	Ogden S, Harave S, McPartland J, Brennan B, Jeys L, Losty P and Pizer B: Angiomatoid fibrous histiocytoma: A case of local recurrence and metastases to loco-regional lymph nodes that responded to chemotherapy. Pediatr Blood Cancer: 64, 2017 doi: 10.1002/pbc.26376.
27	Bernini JC, Fort DW, Pritchard M, Rogers BB and Winick NJ: Adjuvant chemotherapy for treatment of unresectable and metastatic angiomatoid malignant fibrous histiocytoma. Cancer. 74:962–964. 1994.PubMed/NCBI View Article : Google Scholar