BMC surgery · 2026
Diagnostic confirmation of adult sinonasal rhabdomyosarcoma through comprehensive immunohistochemical profiling: a case report.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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История · было → стало
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Khademi Bijan, Yousefi Alireza, Bagheri Milad, Yousufzai Shayan, Fatehi Negar
Аннотация
BACKGROUND: Adult sinonasal rhabdomyosarcoma (RMS) is an exceptionally rare and aggressive malignancy originating from mesenchymal cells. It poses a significant diagnostic challenge due to its morphological and immunohistochemical overlap with other small round blue cell tumors, such as neuroendocrine carcinoma and olfactory neuroblastoma. Accurate diagnosis requires a high index of suspicion, advanced imaging, and comprehensive histopathology aided with immunohistochemistry (IHC) for specific myogenic markers like Myogenin and MyoD1.
CASE PRESENTATION: A 27-year-old male presented with recurrent epistaxis and headache. MRI revealed an enhancing ethmoidal mass with intracranial extension. Following endoscopic surgery, initial pathology suggested neuroendocrine carcinoma. However, a detailed IHC panel showed strong nuclear positivity for MyoD1 and myogenin, confirming RMS. The tumor had a high Ki-67 index (~ 70%). FISH testing was negative for FOXO1 rearrangement, favoring embryonal subtype. Postoperative imaging confirmed complete resection. The patient received adjuvant chemotherapy and radiotherapy.
CONCLUSION: This case underscores the diagnostic difficulty of sinonasal RMS. A definitive diagnosis is contingent upon integrating imaging findings with histopathology and an extensive IHC panel to identify myogenic differentiation. Once confirmed, prompt, multimodal therapy administered through a specialized multidisciplinary center is critical for managing this aggressive neoplasm and optimizing patient outcome.
CASE PRESENTATION: A 27-year-old male presented with recurrent epistaxis and headache. MRI revealed an enhancing ethmoidal mass with intracranial extension. Following endoscopic surgery, initial pathology suggested neuroendocrine carcinoma. However, a detailed IHC panel showed strong nuclear positivity for MyoD1 and myogenin, confirming RMS. The tumor had a high Ki-67 index (~ 70%). FISH testing was negative for FOXO1 rearrangement, favoring embryonal subtype. Postoperative imaging confirmed complete resection. The patient received adjuvant chemotherapy and radiotherapy.
CONCLUSION: This case underscores the diagnostic difficulty of sinonasal RMS. A definitive diagnosis is contingent upon integrating imaging findings with histopathology and an extensive IHC panel to identify myogenic differentiation. Once confirmed, prompt, multimodal therapy administered through a specialized multidisciplinary center is critical for managing this aggressive neoplasm and optimizing patient outcome.