Epithelioid sarcoma: A diagnostic challenge of a rare presentation

Epithelioid Sarcoma of Upper Extremity: Diagnostic Dilemma With Therapeutic Challenges

“…The role of imaging in the diagnosis of ES is limited and radiography is of limited utility, although magnetic resonance imaging (MRI) could provide details of soft tissue infiltration and the tumor dimensions [9]. Once the diagnosis of ES has been established through biopsy, a staging CT scan of the thorax and abdomen should be performed followed by a positron emission tomography (PET) to scan for distant metastasis [1,9]. The treatment of ES of the extremity is challenging, especially in the hand due to its complex and intricate anatomy.…”

“…Enzinger (1970) first described epithelioid sarcoma (ES) as a rare, slow-growing, malignant tumor of the distal extremities with a paucity of symptoms and a propensity for recurrence and metastasis. This variant of sarcoma accounts for less than 1% of all soft tissue sarcomas [ 1 , 2 ]. Due to its multivariate presentation, diagnostic difficulty, aggressive nature, and therapeutic uncertainty, it has been described as a “great masquerader” and “a wolf in sheep's clothing” [ 3 , 4 ].…”

Epithelioid Sarcoma of the Spine: A Review of Literature and Case Report

“…As ES can sometimes comprise spindle-shaped cells, malignant mimics include those of malignant spindle-cell neoplasms such as synovial sarcomas, fibrosarcomas, angiosarcomas, malignant fibrous histiocytomas, and malignant extrarenal rhabdoid tumors [11,14,18]. The proximal type of ES should also be differentiated from other neoplasms with epithelioid and/or rhabdoid cells, for example, extrarenal malignant rhabdoid tumor, melanoma, rhabdomyosarcoma, malignant peripheral nerve sheath tumor, undifferentiated carcinoma, and other sarcomas including synovial sarcoma and extraskeletal myxoid chondrosarcoma [2,3,5]. Appropriate immunohistochemical staining showing positivity for vimentin, cytokeratins, EMA, and CD34, and negativity for the S100 protein, HMB-45, FLI-1, and desmin, as well as SMARCB1/INI1 gene deletion, is helpful to arrive at an accurate diagnosis and exclude most of the aforementioned tumors [15].…”

“…First described by Enzinger in 1970, it was characterized as a slowgrowing painless swelling typically occurring in the distal extremities [2]. It is challenging to diagnose ES accurately, as it is known to mimic a chronic inflammatory process which is often misdiagnosed as a benign condition clinically [2][3][4]. Despite the often-indolent clinical presentation, the disease has a poor prognosis, with high propensity for local recurrence, as well as lymphatic and hematogenous metastatic spread [5].…”