Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 16, 2023; 11(26): 6252-6261
Published online Sep 16, 2023. doi: 10.12998/wjcc.v11.i26.6252
Difficulties in diagnosing angiomatoid fibrous histiocytoma of the head and neck region: A case report
Adam Michcik, Marta Bień, Barbara Wojciechowska, Adam Polcyn, Łukasz Garbacewicz, Jacek Kowalski, Barbara Drogoszewska
Adam Michcik, Marta Bień, Barbara Wojciechowska, Adam Polcyn, Łukasz Garbacewicz, Barbara Drogoszewska, Department of Maxillofacial Surgery, Medical University of Gdańsk, Gdańsk 80-214, Poland
Jacek Kowalski, Department of Pathomorphology, Medical University of Gdańsk, Gdańsk 80-214, Poland
Author contributions: Michcik A was the maxillofacial surgeon who treated the patient, contributed to editing and to supervision; Bień M and Wojciechowska B contributed to manuscript writing, data collection; Kowalski J made pathomorphological part; all authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the patient for the publication of this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Marta Bień, MD, Doctor, Department of Maxillofacial Surgery, Medical University of Gdańsk, 17 Mariana Smoluchowskiego, Gdańsk 80-214, Poland. bienmartaa@gmail.com
Received: May 31, 2023
Peer-review started: May 31, 2023
First decision: August 10, 2023
Revised: August 16, 2023
Accepted: August 21, 2023
Article in press: August 21, 2023
Published online: September 16, 2023
Processing time: 99 Days and 14.9 Hours
Abstract
BACKGROUND

Angiomatoid fibrous histiocytoma (AFH) is a rare, slow-growing soft tissue tumor. It appears mostly on the limbs and trunk in children and young adults. The biology of AFH remains unclear because of the small number of reported cases. Diagnostic testing does not provide definitive results. It has two clinical forms, that differ in terms of gene expression and clinical prognosis. It is important to inform the laboratory which specific gene testing is necessary. Here, we describe a case of rare AFH in the submandibular region using a full genetic panel.

CASE 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 side. The lesion was homogeneous and painless upon palpation. No skin discoloration was observed. Due to the non-specific radiological picture computed tomography (CT), magnetic resonance imaging (MRI), cone-beam CT (CBCT), and ultrasound-guided biopsy were performed. A venous malformation was suspected on the MRI. None of the tests provided a definitive diagnosis. Owing to the non-specific radiological findings, the patient qualified for surgical treatment. The surgical procedure included an excisional biopsy. The diagnostic testing was extended using gene rearrangements. The most distinctive gene translocation in diagnosing AFH is within the EWS RNA-binding protein 1 (EWSR1)-CREB-binding protein. However, in this case, the diagnosis was confirmed by a rearrangement within the EWSR1 gene testing.

CONCLUSION

AFH in the submandibular location is rare, and surgical treatment with genetic evaluation defines AFH type that affects subsequent procedures.

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

Core Tip: Angiomatoid fibrous histiocytoma (AFH) is a rare neoplasm of soft tissues with an atypical location and a large morphological spectrum, and is considered a lesion with diagnostic difficulties. Auxiliary diagnostic tests in the field of molecular genetics are also important. The EWS RNA-binding protein 1-CREB-binding protein 1 t(2;22)(q33;q12) fusion assay is an extremely important diagnostic element that should be routinely performed in patients with AFH. In the case of gene translocations, we are obliged to increase the frequency of follow-up examinations. However, owing to the small number of clinical cases, it is difficult to predict the course of the disease and assess patient prognosis.