Successful Diagnosis of a SMARCA4-Deficient Undifferentiated Tumor via Endobronchial Ultrasound-Guided Fine Needle Aspiration and Endobronchial Biopsies

通过支气管内超声引导下细针穿刺和支气管内活检成功诊断SMARCA4缺陷型未分化肿瘤

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Abstract

Lung cancer is the third most prevalent cancer, following breast cancer in women and prostate cancer in men. However, it remains the leading cause of cancer-related mortality. As treatment options have advanced, the significance of accurate diagnosis has increased, enabling targeted and more personalized therapeutic treatments. SMARCA4-deficient thoracic tumors are a relatively new classification of mediastinal lung cancers that are known to be difficult to diagnose with conventional endobronchial ultrasound-transbronchial needle aspiration (EBUS-TBNA). Newer modalities such as endobronchial ultrasound with cryobiopsy have emerged, and studies have indicated that they offer increased diagnostic yield when coupled with conventional EBUS-TBNA. Here, we present a case in which EBUS-TBNA alone produced sufficient tissue volume for immunohistochemistry at NeoGenomics (Fort Myers, FL), leading to a successful diagnosis.

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