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一个临床病理学和分子重新评估的炎性纤维细胞肉瘤 - 一个有争议和病理挑战的低级肉瘤

Takeshi Hirose¹, Hsin-Yi Chang¹, Carla Saoud¹

¹Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

Genes, chromosomes & cancer

|January 17, 2025

概括

肌炎性纤维细胞肉瘤 (MIFS) 是一个具有挑战性的诊断. VGLL3放大与MIFS的复发和转移有关,这突显了多平台分子测试对准确诊断和预后的重要性.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
病理学病理学病理学

背景情况:

肌性炎症性纤维细胞肉瘤 (MIFS) 是一种罕见的低级肉瘤,倾向于状软组织.
由于其多样化的组织学和分子异质性,MIFS存在诊断挑战,需要多平台方法进行确认.
虽然局部复发是常见的,但远程转移是罕见的,尽管确定的诊断可能是不确定的,特别是在非部位或分子阴性病例中.

研究的目的:

对MIFS进行详细的临床病理学和分子再评估.
确定与MIFS.中的特定遗传变异相关的潜在结果.
提高MIFS的诊断确定性和预后理解.

主要方法:

选择一个由33名被诊断为MIFS的患者组成的队列.
利用光在现场杂交 (FISH),阿切尔和针对性下一代测序 (NGS) 进行分子测试.
进行了全面的临床病理学分析.

主要成果:

在84%的病例中发现了VGLL3放大,在33%的病例中发现了BRAF融合,32%的病例中发现了TGFBR3/MGEA5重组.
检测到两个新的融合 (RRAGB::CCNB3和FGFR1::ZBTB47) 和一个YAP1::MAML2的融合.
复发发生在24%的患者中,转移发生在12%的患者中,所有转移病例都与VGLL3放大有关.

结论:

积极的外科边缘状况与复发率增加和无病生存时间 (DFS) 减少相关.
多平台分子测试对于确认MIFS诊断和指导治疗至关重要.
VGLL3放大与转移潜力之间的关联需要进一步调查.

关键词:

这是一个BRAFBRAF.在MGEA的MGEA.这是TGFBR3的TGFBR3.VGLL3VGLL3VGLL3VGLL3VGLL3VGLL3VGLL3VGLL3VGLL3VGLL3 融合融合融合融合融合融合融合融合融合肌性炎症性纤维细胞肉瘤 (Myxoinflammatory Fibroblastic Sarcoma) 是一种肌性炎症性纤维细胞肉瘤.

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