Mesh : Humans Male Middle Aged Quality of Life DNA Helicases / genetics deficiency Transcription Factors / genetics Lung Neoplasms Nuclear Proteins / genetics deficiency Pneumonectomy

来  源:   DOI:10.1097/MD.0000000000039045   PDF(Pubmed)

Abstract:
BACKGROUND: SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a recently reported rare malignancy that can rapidly metastasize to tissues and organs throughout the body. The tumor is characterized by a lower response to platinum-based chemotherapy. More regrettably, the mean survival time of patients with this disease after diagnosis is only 4 to 7 months.
METHODS: A 58-year-old man was admitted to a hospital for fatigue, sudden syncope, and a mass-like shadow of his left upper lobe demonstrated by a pulmonary computed tomographic. Based on his subsequent clinical and pathological features, he was highly suspected of SMARCA4-UT.
METHODS: Combined with next-generation sequencing genetic testing and immunohistochemical examination results, the patient was diagnosed with SMARCA4-UT.
METHODS: The patient received a left upper lobectomy and lymph node dissection, four-course chemotherapy divided into 8 sessions with the use of paclitaxel simply, and a proper post-discharge self-care.
RESULTS: The patient\'s operation and chemotherapy were all successful and he maintained a high quality of life after surgery that far exceeded his predicted survival.
CONCLUSIONS: Early diagnosis, higher education level, attention to the disease and complications, reducing chemotherapy damage, adequate nutrient intake, relieving symptoms, controlling depression, and maintaining immunity and the ability to perform activities of daily living may all be the positive factors that can prolong the survival of patients with SMARCA4-UT.
摘要:
背景:SMARCA4缺陷型未分化肿瘤(SMARCA4-UT)是一种最近报道的罕见恶性肿瘤,可以迅速转移到整个身体的组织和器官。肿瘤的特征在于对基于铂的化疗的反应较低。更令人遗憾的是,确诊后,本病患者的平均生存时间仅为4~7个月。
方法:一名58岁男子因疲劳入院,突发性晕厥,肺部计算机断层扫描显示了他的左上叶的肿块状阴影。根据他随后的临床和病理特征,他高度怀疑SMARCA4-UT。
方法:结合下一代测序基因检测和免疫组织化学检查结果,患者被诊断为SMARCA4-UT.
方法:患者接受了左上叶切除和淋巴结清扫术,四个疗程的化疗分为8个疗程,简单地使用紫杉醇,和适当的出院后自我护理。
结果:患者的手术和化疗都是成功的,手术后他保持了高质量的生活,远远超过了他的预期生存率。
结论:早期诊断,高等教育水平,注意疾病和并发症,减少化疗损伤,充足的营养摄入量,缓解症状,控制抑郁症,维持免疫力和日常生活活动能力可能是延长SMARCA4-UT患者生存期的积极因素。
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