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Difficulties in diagnosing angiomatoid fibrous histiocytoma of the head and neck region:A case report

世界临床病例杂志 2023年第26期11卷 6252-6261页

作者： Adam Michcik Marta Bień barbara Wojciechowska Adam Polcyn Łukasz Garbacewicz Jacek Kowalski barbara drogoszewska Department of Maxillofacial Surgery Medical University of GdańskGdańsk 80-214Poland Department of Pathomorphology Medical University of GdańskGdańsk 80-214Poland

BACKGROUND Angiomatoid fibrous histiocytoma(AFH)is a rare,slow-growing soft tissue *** appears mostly on the limbs and trunk in children and young *** biology of AFH remains unclear because of the small number of reported *** testing does not provide definitive *** has two clinical forms,that differ in terms of gene expression and clinical *** is important to inform the laboratory which specific gene testing is ***,we describe a case of rare AFH in the submandibular region using a full genetic *** SUMMARY A 13-year-old boy who had been misdiagnosed in the past 6 mo by his dentist visited our clinic because of a lesion in the submandibular area on the right *** lesion was homogeneous and painless upon *** skin discoloration was *** to the non-specific radiological picture computed tomography(CT),magnetic resonance imaging(MRI),cone-beam CT(CBCT),and ultrasoundguided biopsy were performed.A venous malformation was suspected on the *** of the tests provided a definitive *** to the non-specific radiological findings,the patient qualified for surgical *** surgical procedure included an excisional *** diagnostic testing was extended using gene *** most distinctive gene translocation in diagnosing AFH is within the EWS RNA-binding protein 1(EWSR1)-CREB-binding ***,in this case,the diagnosis was confirmed by a rearrangement within the EWSR1 gene *** AFH in the submandibular location is rare,and surgical treatment with genetic evaluation defines AFH type that affects subsequent procedures.

关键词： Angiomatoid fibrous histiocytoma Head and neck Fine-needle aspiration CREB-binding protein Gene expression Computed tomography Case report

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