Primary pulmonary alveolar soft part sarcoma with ASPSCR1-TFE3 gene fusion: Case report and literature review

• Published in: Medicine (Baltimore) 2024-11, Vol.103 (44), p.e40249
• Main Authors: Hu, Xijian, Chai, Jing, Zhang, Bin, Hu, Chengguang
• Format: Article
• Language: English
• Subjects: Adult; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics; Clinical Case Report; Gene Fusion; Humans; Intracellular Signaling Peptides and Proteins; Lung Neoplasms - diagnosis; Lung Neoplasms - diagnostic imaging; Lung Neoplasms - genetics; Lung Neoplasms - pathology; Male; Nerve Tissue Proteins - genetics; Oncogene Proteins, Fusion - genetics; Sarcoma, Alveolar Soft Part - diagnosis; Sarcoma, Alveolar Soft Part - genetics; Sarcoma, Alveolar Soft Part - pathology; Tomography, X-Ray Computed
• ISSN: 1536-5964; 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000040249

Primary pulmonary alveolar soft part sarcoma (ASPS) is an extremely rare disease characterized by a specific genetic abnormality - the ASPSCR1-TFE3 gene fusion. This study presented a 27-year-old male patient who experienced persistent chest tightness for over 6 months. The computed tomography (CT) scan and enhanced CT scan revealed a mass in the medial segment of the right middle lobe of his lung. The patients then underwent further diagnosis. Pathological examination showed the tumor to be consisting of polygonal cells with abundant eosinophilic or transparent cytoplasm arranged in nests. Next-generation sequencing reported ASPSCR1-TFE3 gene fusion, confirming the final diagnosis of primary pulmonary ASPS. Regular follow-ups of 12 months showed no signs of tumor recurrence. The patients underwent the medial segment resection of the right middle lobe for treatment. A CT examination 3 months after the operation showed that the patient had improved. The last review showed no recurrence or metastasis. This case report highlights the importance of detailed diagnosis, prompt treatment, and close monitoring of patients with ASPS.