Adamantinoma-Like Ewing Sarcoma of the Head and Neck: A Case-Series of a Rare and Challenging Diagnosis

Abstract

Adamantinoma-like Ewing sarcoma (ALES) is a rare malignant tumor characterized by EWSR1::FLI1 related fusions and complex epithelial differentiation. ALES poses a tremendous diagnostic challenge owing to its resemblance to a wide variety of common head and neck malignancies. We aimed to study the clinicopathologic spectrum of ALES diagnosed at our institute. A retrospective review of the clinical and pathologic features of all EWSR1-rearranged ALES cases was performed after confirming the diagnosis. The cases lacking EWSR1 rearrangement were excluded. A total of 7 patients were analyzed. The median age was 27 years (range 7-42 years). There were 4 males and 3 female patients. Tumors were distributed as follows: maxilla (n = 2), parotid (n = 2), nasal cavity (n = 1), ethmoid/maxilla (n = 1), and thyroid (n = 1). Tumor size ranged from 2.2 to 5.5 cm. On microscopy, tumors displayed nested-lobular architecture, monomorphic cells, and interlobular fibrotic stroma. Other features included: palisading (n = 5), squamous differentiation (n = 2), keratinization (n = 1), colonisation of salivary ducts (n = 1) and thyroid follicles (n = 1), follicle-like cysts (n = 3), calcification (n = 2), necrosis (n = 3). Mitotic rate was 4-15/2 mm². On immunohistochemistry, cytokeratins (100%), p40 (100%), strong/diffuse membranous CD99 (100%), NKX2.2 (100%), Fli-1 (71%), and synaptophysin (71%) was positive. Patients received chemotherapy (n = 7) and radiotherapy (n = 4). Two patients developed recurrence at 6 and 10 months; 3 developed metastases at 0, 6, and 25 months. ALES is a rare and aggressive malignancy that mimics diverse neoplasms common in the head and neck region. Awareness of the morphologic and immunohistochemistry spectrum of this tumor is essential to avoid diagnostic errors.

Keywords: Adamantinoma-like Ewing sarcoma; Clinical; EWSR1; Ewing sarcoma; Head and neck; Orbit; Pathology; Salivary; Sinonasal; Thyroid; Treatment; Undifferentiated round cell sarcomas.