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病例报告:原发性肺部低级纤维肌状肉瘤进展到脱差:可能是由于TP53驱动突变

Jiawen Zhang¹, Haisheng Fang¹, Xiaomei Zhu²

¹Department of Pathology, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.

Frontiers in oncology

|March 18, 2024

概括

这项研究详细介绍了一种罕见的肺部低级纤维化瘤 (LGFMS) 病例,该病例随着时间的推移而脱差. 鉴定出TP53突变是这种攻击性转变的一个潜在驱动因素.

科学领域:

在瘤学瘤学.
病理学病理学病理学
遗传学遗传学是一个

背景情况:

低级纤维化瘤 (LGFMS) 是一种罕见的软组织瘤,具有典型的良性组织学特征.
LGFMS通常会影响深层软组织,但很少会涉及内脏,并且可能经历脱差.
转移和LGFMS的脱差是不常见的,这使得这些病例对理解瘤进展具有重要意义.

研究的目的:

报告一次性原发性肺性LGFMS病例,随后进行脱差.
调查与LGFMS脱差过程相关的分子变化.
突出TP53突变在LGFMS进展中的潜在作用.

主要方法:

对初级肺部,转移性胰腺和复发性中枢骨质质量的组织病理学检查.
针对p53表达的免疫组织化学分析.
分子分析包括FUS::CREB3L2重新排列和TP53突变检测.

主要成果:

主要肺部和转移性胰腺LGFMS表现出经典特征,而复发的中质量表现出高度的脱差.
经典和非分化区域都包含了FUS::CREB3L2重新排列.
脱差的中瘤还呈现TP53 H193Y突变和强烈的p53表达,与初级和转移性病变不同.

结论:

中质量被诊断为没有分化的LGFMS.
提议TP53突变和随后的p53过度表达是LGFMS脱差的潜在驱动因素.
这一案例是首次报告TP53突变在不分化的LGFMS中.

关键词:

在LGFMS中使用LGFMS.这就是TP53的特点.没有区分,没有分化.肺肺肺肺肺肺肺肺肺这是下一代测序.

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