解码BCOR-ITD肉瘤:一个罕见的儿科瘤的病例报告,在诊断方面存在挑战
Emilio Medina-Ceballos1, María Niveiro2,3, Laura Ureña-Horno3,4
1Pathology Department, Hospital Clínico Universitario de Valencia, Valencia, Spain.
概括
这项研究详细介绍了一名患有BCOR内部合重复 (ITD) 的儿童罕见的高度纳索状肉瘤. 这一案例凸显了诊断方面的挑战,以及对这些侵袭性BCOR改变型瘤的更好的检测方法的需求.
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:
- BCOR基因变异定义了一个独特的高等级小圆细胞瘤群,占缺乏EWSR或FUS融合的病例的5%.
- 常见的遗传变化包括BCOR-CCNB3基因融合,以及不太常见的内部串联重复 (ITD).
研究的目的:
- 在儿科患者中呈现一种高度纳索状肉瘤与BCOR-ITD的病例.
- 为了说明检测BCOR-ITDs的诊断复杂性和挑战.
主要方法:
- 组织学和免疫表型分析.
- 广泛的免疫组织化学面板和多种分子测试.
- 评估下一代测序 (NGS) 面板用于BCOR-ITD检测.
主要成果:
- 一名3岁的女孩被诊断出患有高等级的鼻状肉瘤,其中含有BCOR-ITD.
- 该病例证明了BCOR改变的肉瘤的广泛的组织学和免疫类型谱.
- 标准NGS面板在准确检测BCOR-ITD方面遇到了挑战,这表明需要采用替代的分子方法.
结论:
- 准确分类BCOR改变的肉瘤需要全面的诊断工作,包括先进的分子技术.
- 对于这些罕见而具有攻击性的瘤,迫切需要改进诊断方法和治疗策略.
- 患者仍然活着,病情进展,这凸显了这种恶性瘤的攻击性.
相关概念视频
Treatment Resistant Cancers
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...
Rous Sarcoma Virus (RSV) and Cancer
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Rous Sarcoma Virus (RSV) and Cancer
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
Barrett Esophagus-II: Clinical Manifestations and Management
Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...


