A 20-year-old female was incidentally diagnosed with a rare giant pulmonary extraskeletal Ewing sarcoma following presentation with cough and fevers and a positive COVID-19 test.
Case Report (n=1)
Highlights a rare case of primary pulmonary extraskeletal Ewing sarcoma discovered incidentally in a young female.
Abstract Introduction Extraskeletal Ewing Sarcoma (EES) is a rare disease making up 20-30% of all Ewing Sarcoma cases. Primary pulmonary disease is less prevalent, with fewer than thirty reported cases worldwide. It accounts for less than 1% of all Ewing sarcomas. We present a case of a 20-year-old female with an incidental lung mass and after histopathology, immunochemistry and molecular testing it was determined to be pulmonary EES. Description A 20-year-old female with active marijuana use history presents as a hospital transfer due to an incidental large right lung mass with concern for mediastinal compression. She was in town visiting family when she noticed increasing coughs and fevers, thus went to a freestanding emergency department where she tested positive for COVID-19. A chest x-ray performed there showed this lung mass thus she was transferred to our hospital for further workup. Computed tomography angiography of the chest denoted a 13.6cm by 12.7cm by 10cm heterogenous mass in the lower right pleural space with compressive atelectasis. Interventional pulmonology was consulted and performed a flexible bronchoscopy with ultrasound-guided biopsies of this mass. Cytology depicted EES with atypical cells suggestive of malignant small round-blue cell neoplasm. Immunochemistry was strongly positive for diffuse CD99 and nuclear NKX2.2 which favors Ewing sarcoma, as well as a positive genetic marker with EWSR1 gene fusion presence noted. At the time of submission, formal tumor board discussions were pending. Discussion Clinical features of pulmonary EES are often non-specific, mostly presenting as cough, weight loss or anorexia, Horner’s syndrome, regional lymphadenopathy or other mild constitutional symptoms. Advanced chest imaging typically reveals a large heterogeneous enhancing mass, often with pleural involvement. Initial diagnosis is made with core needle biopsy showing monomorphic, small round blue cells that contain large spherical nuclei, inconspicuous nucleoli and indistinct cytoplasmic borders. Definitive diagnosis using molecular and immunohistochemical testing can demonstrate CD99 positivity, in addition to FL-1, ERG, NKX2.2, and Vimentin. EWSR1 gene fusion is usually the most specific molecular feature. Multimodal therapy is standard and includes chemotherapy with VDC/IE (Vincristine, Doxorubicin, Cyclophosphamide and/or Ifosfamide, Etoposide), complete surgical resection with negative margins if feasible, radiation or stereotactic body radiation therapy depending on metastatic extent and immunotherapy use (Pembrolizumab is currently being studied). Prognosis is generally favorable with a 5-year survival rate exceeding 70-80% for patients with localized disease. Continued investigation is essential to enhance our knowledge and optimize treatment for EES. This abstract is funded by: None
Hernandez et al. (Fri,) conducted a case report in Pulmonary Extraskeletal Ewing Sarcoma (n=1). Diagnostic workup was evaluated. A 20-year-old female was incidentally diagnosed with a rare giant pulmonary extraskeletal Ewing sarcoma following presentation with cough and fevers and a positive COVID-19 test.