[具有罕见融合亚型的骨化纤维肌状瘤:临床病理学分析]
Zhonghua bing li xue za zhi = Chinese journal of pathology
|December 8, 2025
概括
具有罕见的融合亚型的骨化纤维化瘤 (OFMT) 可能呈现出不寻常的特征,缺乏骨. 免疫组织化学,特别是TFE3染色,对于诊断这些罕见的OFMT病例至关重要.
科学领域:
- 病理学 病理学 病理学
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 骨化纤维肌状瘤 (OFMT) 是一种罕见的介质细胞瘤.
- 特定的OFMT融合亚型可以表现出独特的临床病理学特征.
- 精确诊断罕见的OFMT亚型需要综合临床病理学和分子分析.
研究的目的:
- 研究具有罕见融合亚型的骨化纤维肌状瘤 (OFMT) 的临床病理学和分子遗传特征.
- 评估免疫组织化学 (IHC) 和向RNA测序在诊断这些罕见的OFMT中的实用性.
- 突出罕见OFMT亚型的诊断挑战和差异点.
主要方法:
- 对具有罕见融合亚型的OFMT三例病例的回顾性分析.
- 进行了免疫组织化学 (IHC),光在位杂交 (FISH) 和向RNA测序.
- 为了进行比较分析,进行了全面的文献审查.
主要成果:
- 三名男性患者 (年龄为50,74,58) 呈现出缓慢生长,无痛的皮肤/皮下质量.
- 组织病理学发现OFMT具有可变的纤维肌状层,缺乏完整的骨;CD10在所有病例中都表达强烈.
- 基因分析在两例中发现了PHF1::TFE3融合,在一例中发现了MEAF6::PHF1融合;在两例中发现了TFE3核表达.
结论:
- 罕见的OFMT融合亚型可以表现出非典型的组织学和免疫类型特征,通常缺乏特征性的骨.
- TFE3免疫组织化学对于查罕见PHF1::TFE3融合的OFMT病例非常有价值.
- 了解这些罕见的OFMT亚型的独特特征对于使用分子工具进行准确的诊断至关重要.
相关概念视频
01:11Fibril-associated Collagen
3.2K
Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
3.2K
00:55Fibrous Proteins
4.1K
Fibrous proteins are either long and narrow proteins or assemble to form long and thin structures. They contain repetitive units and usually consist of either alpha helices or beta sheets and, in rare cases, a mix of both. The amino acids in the primary structure often consist of repeating amino acid sequences. The role of fibrous proteins is primarily structural. Many are located in the extracellular matrix and are present in connective tissues to impart strength and joint mobility. They are...
4.1K
01:48Classification of Skeletal Muscle Fibers
59.3K
Skeletal muscles continuously produce ATP to provide the energy that enables muscle contractions. Skeletal muscle fibers can be categorized into three types based on differences in their contraction speed and how they produce ATP, as well as physical differences related to these factors. Most human muscles contain all three muscle fiber types, albeit in varying proportions.
Slow-Twitch Muscle Fibers
Slow oxidative, muscle fibers appear red due to large numbers of capillaries and high levels of...
Slow-Twitch Muscle Fibers
Slow oxidative, muscle fibers appear red due to large numbers of capillaries and high levels of...
59.3K