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

IF 1.3 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Medicine Pub Date : 2024-11-01 DOI:10.1097/MD.0000000000040249

Xijian Hu, Jing Chai, Bin Zhang, Chengguang Hu

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引用次数: 0

Abstract

Rationale: Primary pulmonary alveolar soft part sarcoma (ASPS) is an extremely rare disease characterized by a specific genetic abnormality - the ASPSCR1-TFE3 gene fusion.

Patient concerns: This study presented a 27-year-old male patient who experienced persistent chest tightness for over 6 months.

Diagnoses: 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.

Interventions: The patients underwent the medial segment resection of the right middle lobe for treatment.

Outcomes: A CT examination 3 months after the operation showed that the patient had improved. The last review showed no recurrence or metastasis.

Lessons: This case report highlights the importance of detailed diagnosis, prompt treatment, and close monitoring of patients with ASPS.

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原发性肺泡软组织肉瘤伴有 ASPSCR1-TFE3 基因融合：病例报告和文献综述。

依据：原发性肺泡软组织肉瘤（ASPS原发性肺泡软组织肉瘤（ASPS）是一种极为罕见的疾病，其特征是一种特殊的基因异常--ASPSCR1-TFE3基因融合：本研究的患者是一名 27 岁的男性，持续胸闷超过 6 个月：计算机断层扫描（CT）和增强 CT 扫描显示他的右肺中叶内侧段有肿块。患者随后接受了进一步诊断。病理检查显示，肿瘤由多角形细胞组成，嗜酸性或透明细胞质丰富，呈巢状排列。下一代测序结果显示 ASPSCR1-TFE3 基因融合，最终确诊为原发性肺 ASPS。12个月的定期随访显示肿瘤无复发迹象：干预措施：患者接受右肺中叶内侧段切除术治疗：术后 3 个月的 CT 检查显示患者病情有所好转。最后一次复查显示无复发或转移：本病例报告强调了对 ASPS 患者进行详细诊断、及时治疗和密切监测的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Medicine 医学-医学：内科

CiteScore

2.80

自引率

0.00%

发文量

4342

审稿时长

>12 weeks

期刊介绍： Medicine is now a fully open access journal, providing authors with a distinctive new service offering continuous publication of original research across a broad spectrum of medical scientific disciplines and sub-specialties. As an open access title, Medicine will continue to provide authors with an established, trusted platform for the publication of their work. To ensure the ongoing quality of Medicine’s content, the peer-review process will only accept content that is scientifically, technically and ethically sound, and in compliance with standard reporting guidelines.