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Ewing sarcoma usually affects bone, but rectal Ewing sarcoma is a different clinical entity. Specifically, it presents as a rare extraosseous tumor. Recently, a 38-year-old male reported rectal bleeding. Consequently, a physical exam revealed an ulcerated rectal polyp near the dentate line. Because the lesion was ulcerated, doctors performed an excisional biopsy. Subsequent analysis showed a monotonous round cell malignancy involving the submucosal tissue. Moreover, the tumor exhibited necrosis and marked mitotic activity. Therefore, the pathology team used immunohistochemical studies to narrow the diagnosis.
Notably, the tumor cells reacted strongly to CD99 and NKX2.2. Furthermore, the clinical team utilized next-generation sequencing for definitive proof. Specifically, the test identified an EWSR1::FLI1 fusion variant junction in exon 7 for EWSR1 and exon 6 for FLI1. Because this fusion is pathognomonic for the Ewing family of tumors, it confirmed the diagnosis. Additionally, subsequent imaging showed no evidence of metastatic disease. Consequently, the patient underwent a successful re-excision. Finally, the procedure confirmed that there was no residual tumor.
Pathologists identify these tumors by looking for monotonous round cells. Moreover, they use markers like CD99 and NKX2.2. However, molecular confirmation of EWSR1 fusions is often necessary.
No, it is extremely rare. Specifically, this is only the second molecularly confirmed case of a superficial rectal primary tumor described in medical literature.
Disclaimer: This content is for informational and educational purposes only. It does not constitute professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Refer to the latest local and national guidelines for clinical practice.
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