Understanding Diagnostic Challenges in Ewing Sarcoma - A Report of Two Cases

Ewing sarcoma, along with its variants that come under the Ewing Sarcoma Family of Tumors, deals with significant diagnostic challenges due to overlapping morphological features with other undifferentiated small round cell tumors. This study explores cases where initial diagnostic uncertainty questioned our conventional diagnostic modalities, highlighting the necessity of recent advancements in molecular analysis.

Two adolescent patients with clinical and radiological suspicion of Ewing sarcoma underwent biopsy and histopathological evaluation. Immunohistochemical panels were utilized. However, these cases demonstrated diagnostic ambiguity, necessitating further molecular testing for EWSR1 gene rearrangements - tests that were either unavailable or not pursued due to the death of the patient during follow-up, and one patient refused to do so and is in palliative chemotherapy. Usually, Ewing sarcoma presents in the first decade. These cases presented with diagnostic ambiguity because of variation in age, pattern of presentation, lymph node involvement and histopathological variation.

Our experience brings to light the importance of incorporating molecular genetic analysis in the diagnosis of Ewing sarcoma. As the World Health Organization (WHO) classification evolves to accommodate genetically distinct Ewing-like sarcomas, it is critical to incorporate multidisciplinary consultation and the availability of molecular investigation to provide accurate diagnosis and rapid initiation of precise treatment. It is extremely important for orthopedic surgeons to be aware of these diagnostic nuances so that they can guide patients through proper diagnostic and effective treatment.