甲状腺发病的多形性拉布多米索尔科马与新型TP 53内在框架转移突变:一个案例报告和文献综述
Qi Zhao1, Bin Lv1, Luchuan Li1
1Department of Thyroid Surgery, General Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, China.
World journal of surgical oncology
|December 12, 2025
概括
形肌肉肉瘤 (PRMS) 是一种罕见的甲状腺癌. 通过核心针活检 (CNB) 进行诊断是有效的,新型TP53突变可能导致甲状腺PRMS的发展.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 遗传学 是一个遗传学.
背景情况:
- 多形性狂宫肌肉瘤 (PRMS) 是一种罕见的,高度恶性软组织肉瘤.
- 甲状腺中的PRMS是非常罕见的,并模仿了sarcomatoid anaplastic甲状腺癌.
研究的目的:
- 报告一种罕见的甲状腺PRMS病例.
- 要突出甲状腺PRMS中核心针活检 (CNB) 的诊断实用性.
- 为了确定甲状腺PRMS的潜在遗传驱动因素.
主要方法:
- 一名58岁的男性患有迅速扩大的甲状腺质量,接受了成像和核心针活检 (CNB).
- 进行了免疫组织化学染色和遗传分析 (TP53,BRAF,RET/PTC).
- 患者接受了手术,放射治疗和化疗治疗.
主要成果:
- 中央银行证实了具有特定免疫组织化学标志物 (desmin+/myoD1+/myogenin+) 的多形性狂宫肌肉瘤 (PRMS).
- 基因分析显示TP53突变,但没有BRAF V600E或RET/PTC重组.
- 患者经历了手术后24个月的疾病复发.
结论:
- 核心针活检 (CNB) 可以成为PRMS等罕见甲状腺瘤的有效诊断工具.
- 发现了一种新的TP53内基突变,可能导致甲状腺PRMS的发展.
相关概念视频
Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
The Thyroid Gland
The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
Synthesis and Regulation of Thyroid Hormones
Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The iodine is then...
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The iodine is then...
Hyperthyroidism I: Introduction
Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...
Hyperthyroidism II: Pathophysiology
Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH receptors...
Graves' Disease I: Introduction
Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...


