Published online Sep 16, 2023. doi: 10.12998/wjcc.v11.i26.6252
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
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.
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.
AFH in the submandibular location is rare, and surgical treatment with genetic evaluation defines AFH type that affects subsequent procedures.
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.