一个难以破解的NUT癌瘤
Alessandra Celi1, Rossella Bruno2, Paola Vignali3
1Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy.
Pathologica
|November 17, 2025
概括
本案例研究详细介绍了一名年轻男性罕见的NUT癌,使用NUT1免疫组织化学诊断. 分子分析揭示了非正规的BRD4-NUTM1融合,突出了IHC在诊断异常癌症中的重要性.
科学领域:
- 在瘤学瘤学.
- 分子病理学分子病理学
- 基因组学就是基因组学.
背景情况:
- 核突瘤是一种罕见且具有攻击性的恶性瘤.
- 由于异常的形态和免疫组织化学特征,诊断可能具有挑战性.
- NUTM1基因融合是特征性的,但可以呈现异常.
研究的目的:
- 报告一个独特的胸部NUT癌症病例,具有非正规的分子发现.
- 强调NUT1免疫组织化学的诊断实用性.
- 探索综合基因组分析在复杂癌症病例中的作用.
主要方法:
- 组织病理学检查和免疫组织化学 (IHC) 检查NUT1和上皮标记物.
- 下一代测序 (NGS) 用于全面的基因组分析 (基于DNA).
- 阵列比较基因组杂交 (aCGH) 和基于RNA的NGS用于融合转录检测.
主要成果:
- 瘤显示出差异化形态与负的上皮细胞标记物,但积极的NUT1 IHC.
- 基于DNA的NGS检测到BRD4附近的拷贝数变化,但没有NUTM1融合.
- aCGH揭示了相关染色体区域的删除和重复,RNA-NGS证实了BRD4-NUTM1融合转录.
- 这些发现表明非正规的BRD4-NUTM1融合.
结论:
- NUT1免疫组织化学对于诊断具有挑战性的NUT癌症病例至关重要.
- 这一案例突出了非正规的BRD4-NUTM1融合,扩大了NUT癌的分子谱.
- 综合形态,IHC和分子分析对于准确诊断和了解罕见癌症至关重要.
相关概念视频
Adaptive Mechanisms in Cancer Cells
6.9K
Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
6.9K
Cancer
53.4K
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
53.4K
The Tumor Microenvironment
7.6K
Every normal cell or tissue is embedded in a complex local environment called stroma, consisting of different cell types, a basal membrane, and blood vessels. As normal cells mutate and develop into cancer cells, their local environment also changes to allow cancer progression. The tumor microenvironment (TME) consists of a complex cellular matrix of stromal cells and the developing tumor. The cross-talk between cancer cells and surrounding stromal cells is critical to disrupt normal tissue...
7.6K
Treatment Resistant Cancers
3.7K
Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...
3.7K
Tumor Progression
7.2K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
7.2K
Skin Cancer
5.7K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
5.7K

![Chemical-Induced Skin Carcinogenesis Model Using Dimethylbenz[a]Anthracene and 12-O-Tetradecanoyl Phorbol-13-Acetate DMBA-TPA](/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2FCDNSource%2Fteasers%2F60445.jpg&w=3840&q=50)
