A 58-year-old male patient presented with symptoms of persistent right-sided nasal congestion, decreased sense of smell, and protrusion of the right eyeball. After experiencing self-limiting epistaxis, he underwent a sinus CT scan revealing a mass in the right nasal cavity and sinus. Further evaluation through MRI showed a tumor with yolk sac-like differentiation, confirmed by histology and immunohistochemistry expressing SALL-4 and GPC-3 but lacking INI-1 expression, leading to the diagnosis of INI-1 deficient sinonasal carcinoma.
The patient underwent tumor resection followed by four rounds of adjuvant radiotherapy. Subsequent follow-up over 22 months showed no recurrence or metastasis, indicating favorable disease-free survival. This case highlights the importance of distinguishing INI1-deficient sinonasal carcinoma with yolk sac differentiation from primary nasopharyngeal yolk sac tumor, emphasizing the potential efficacy of adjuvant radiotherapy in achieving clinical remission.
SWI/SNF deficient sinonasal carcinoma, a distinct entity from sinonasal undifferentiated carcinomas, includes subtypes like INI1-deficient carcinoma and SMARCA4-deficient carcinoma. The rarity of INI1-deficient sinonasal carcinoma with yolk sac differentiation poses diagnostic challenges, with only a few reported cases in English literature. These tumors typically exhibit basaloid, eosinophilic, or rhabdoid morphologies, with occasional glandular or yolk sac-like features.
Historically, INI1-deficient sinonasal carcinomas have shown aggressive behavior, often resulting in poor outcomes. However, the case presented here demonstrated prolonged clinical remission with adjuvant radiotherapy alone, suggesting a potential treatment option for this rare subtype. The loss of SWI/SNF complex subunits in these tumors disrupts normal cellular regulation, leading to tumorigenesis and necessitating individualized treatment approaches.
Further studies are required to elucidate the optimal management strategies for INI1-deficient sinonasal carcinoma with yolk sac differentiation. The unique histological and immunohistochemical characteristics of these tumors underscore the importance of accurate diagnosis and tailored therapeutic interventions to improve patient outcomes in this challenging clinical scenario.
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