{"title":"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。","authors":"Xijian Hu, Jing Chai, Bin Zhang, Chengguang Hu","doi":"10.1097/MD.0000000000040249","DOIUrl":null,"url":null,"abstract":"<p><strong>Rationale: </strong>Primary pulmonary alveolar soft part sarcoma (ASPS) is an extremely rare disease characterized by a specific genetic abnormality - the ASPSCR1-TFE3 gene fusion.</p><p><strong>Patient concerns: </strong>This study presented a 27-year-old male patient who experienced persistent chest tightness for over 6 months.</p><p><strong>Diagnoses: </strong>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.</p><p><strong>Interventions: </strong>The patients underwent the medial segment resection of the right middle lobe for treatment.</p><p><strong>Outcomes: </strong>A CT examination 3 months after the operation showed that the patient had improved. The last review showed no recurrence or metastasis.</p><p><strong>Lessons: </strong>This case report highlights the importance of detailed diagnosis, prompt treatment, and close monitoring of patients with ASPS.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537591/pdf/","citationCount":"0","resultStr":"{\"title\":\"Primary pulmonary alveolar soft part sarcoma with ASPSCR1-TFE3 gene fusion: Case report and literature review.\",\"authors\":\"Xijian Hu, Jing Chai, Bin Zhang, Chengguang Hu\",\"doi\":\"10.1097/MD.0000000000040249\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Rationale: </strong>Primary pulmonary alveolar soft part sarcoma (ASPS) is an extremely rare disease characterized by a specific genetic abnormality - the ASPSCR1-TFE3 gene fusion.</p><p><strong>Patient concerns: </strong>This study presented a 27-year-old male patient who experienced persistent chest tightness for over 6 months.</p><p><strong>Diagnoses: </strong>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.</p><p><strong>Interventions: </strong>The patients underwent the medial segment resection of the right middle lobe for treatment.</p><p><strong>Outcomes: </strong>A CT examination 3 months after the operation showed that the patient had improved. The last review showed no recurrence or metastasis.</p><p><strong>Lessons: </strong>This case report highlights the importance of detailed diagnosis, prompt treatment, and close monitoring of patients with ASPS.</p>\",\"PeriodicalId\":18549,\"journal\":{\"name\":\"Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537591/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MD.0000000000040249\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MD.0000000000040249","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Primary pulmonary alveolar soft part sarcoma with ASPSCR1-TFE3 gene fusion: Case report and literature review.
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.
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.
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