摘要
目的探讨1例去分化脂肪肉瘤(DDLPS)患者的临床特征及遗传学病因。方法选取2025年1月于湖南省人民医院确诊的1例DDLPS患者作为研究对象。采用回顾性研究方法, 收集本例患者的临床资料, 包括现病史及既往史, 以及辅助检查、组织病理学诊断及基因检测的结果。本研究遵循的程序符合湖南省人民医院(晓庄学院附属第一医院)医学伦理委员会的要求, 并获得其批准(批准号:KY2025-150)。结果本例患者为38岁女性, 因持续腹痛伴腹部包块就诊。其影像学检查结果提示腹腔积液及腹腔占位性病变。手术组织病理学检查结果显示, 肿瘤由梭形细胞构成, 形态及免疫组化难以区分DDLPS与平滑肌肉瘤。高通量测序(NGS)发现DDLPS特征性的分子改变, 荧光原位杂交(FISH)结果证实存在MDM2基因扩增, 患者最终被确诊为DDLPS患者。结论本例患者被确诊为DDLPS, 其临床表现及病理特征均与DDLPS的典型特征相符。分子病理学检测在诊断中发挥了重要的作用, 为本例患者的遗传学精准分型及后续的个体化治疗提供了关键决定性依据。
Objective:To explore the clinical characteristics and genetic etiology of a patient with De-differentiated liposarcoma(DDLPS).Methods:A 38-year-old female patient with DDLPS who had visited Hunan Provincial People′s Hospital in January 2025 was selected as the study subject.A retrospective study method was adopted to collect the patient′s clinical data,including current and past medical history,auxiliary examinations,pathological diagnosis,and results of genetic testing.This study was approved by the Ethics Committee of Hunan Provincial People′s Hospital(Ethics No.:KY2025-150).Results:The patient had presented with abdominal pain and abdominal mass.Imaging studies revealed ascites and space-occupying abdominal lesions.Postoperative pathological examination showed that the tumor was composed of spindle cells,and its morphology and immunohistochemistry had made it difficult to distinguish between DDLPS and leiomyosarcoma.High-throughput sequencing revealed characteristic molecular alterations of DDLPS,and fluorescence in situ hybridization confirmed MDM2 gene amplification,leading to a diagnosis of DDLPS.Conclusion:The patient was diagnosed with DDLPS.Her clinical manifestations and pathological features were consistent with the characteristics of DDLPS.Molecular pathological testing played a crucial role in the diagnosis and provided a crucial reference for subsequent treatment.
作者
敖晶晶
杨飞城
阳玉中
田佳
卢陈嘉
刘晓颖
张喆
阳文秀
莫春健
Ao Jingjing;Yang Feicheng;Yang Yuzhong;Tian Jia;Lu Chenjia;Liu Xiaoying;Zhang Zhe;Yang Wenxiu;Mo Chunjian(Department of Pathology,Hunan Provincial People′s Hospital and the First Affiliated Hospital of Hunan Normal University,Changsha,Hunan 410000,China;Department of Pathology,The First Affiliated Hospital of Guilin Medical University,Guilin,Guangxi 541001,China;Department of Pathology,The People′s Hospital of Longhua,Shenzhen,Guangdong 518109,China)
出处
《中华医学遗传学杂志》
2025年第6期741-746,共6页
Chinese Journal of Medical Genetics
关键词
MDM2基因
去分化脂肪肉瘤
高通量测序
荧光原位杂交
CCDC39 gene
22q11.2 deletion syndrome
Compound heterozygous variants
Primary ciliary dyskinesia
