title: Metastatic angiomatoid fibrous histiocytoma of the scalp, with EWSR1-CREB1 gene fusions in primary tumor and nodal metastasis.
abstract: Angiomatoid fibrous histiocytoma is a rare soft tissue tumor of intermediate biologic potential, predominantly arising in superficial extremities of children and young adults. Less than 5% metastasize. We describe a case of angiomatoid fibrous histiocytoma in the scalp of an 8-year-old boy, which metastasized to a postauricular lymph node 3 years after primary tumor excision. Histologically, primary and metastasis comprised nodules of bland ovoid cells, with primary additionally showing hemorrhagic cavities, fibrous capsule, and lymphoplasmacytic inflammation. Both strongly expressed desmin, with focal epithelial membrane antigen. Reverse transcription-polymerase chain reaction showed EWSR1-CREB1 fusion transcripts in both primary and metastasis. This is, to our knowledge, the first description of genetically proven metastatic angiomatoid fibrous histiocytoma. Angiomatoid fibrous histiocytoma can mimic both benign and malignant lesions, and although most behave indolently, it is important to recognize their metastatic potential.
authors.affiliation: Department of Histopathology, Royal Marsden Hospital, SW3 6JJ London, UK. khin.thway@rmh.nhs.uk
authors.forename: Khin
authors.initials: K
authors.lastname: Thway
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Stefanaki
authors.forename: Vassilios
authors.initials: V
authors.lastname: Papadakis
authors.forename: Cyril
authors.initials: C
authors.lastname: Fisher
mesh_terms: D014408:Biomarkers, Tumor / Q000378:metabolism*; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002648:Child; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D003893:Desmin / Q000378:metabolism; D005500:Follow-Up Studies; D050939:Gene Fusion; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D051677:Histiocytoma, Malignant Fibrous / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D008198:Lymph Nodes / Q000473:pathology; D008207:Lymphatic Metastasis; D008297:Male; D012334:RNA, Neoplasm / Q000235:genetics; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012535:Scalp; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014178:Translocation, Genetic; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; C115163:CREB1 protein, human; D002148:Calmodulin-Binding Proteins; D017362:Cyclic AMP Response Element-Binding Protein; D003893:Desmin; C500986:EWSR1 protein, human; D012334:RNA, Neoplasm; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins