涉及胃肠道的全身性巨细胞瘤的明显的临床,实验室,分子和病理特征
April Chiu1, David S Viswanatha1, Rong He1
1Division of Hematopathology, Mayo Clinic, Rochester, MN, United States.
American journal of clinical pathology
|November 26, 2025
概括
胃肠道 (GI) 巨细胞瘤是骨髓 (BM) 中系统性巨细胞瘤 (SM) 的强有力的指标. 然而,大多数MS患者的胃肠道活检结果呈阴性,这凸显了全面诊断方法的必要性.
科学领域:
- 胃肠病学 胃肠病学
- 血液学 血液学 血液学
- 在瘤学瘤学.
背景情况:
- 胃肠道 (GI) 症状经常在全身性巨细胞瘤 (SM) 患者中观察到.
- 准确诊断GI参与MS对于有效管理至关重要.
- 了解胃肠道巨细胞瘤的临床病理和分子特征是必不可少的.
研究的目的:
- 调查GI巨细胞瘤的临床病理学和分子特征.
- 评估GI活检结果对系统性巨细胞瘤的诊断价值.
- 评估肠道和骨髓 (BM) 巨细胞瘤之间的关系.
主要方法:
- 分析了来自104名疑似MS患者的258个GI活检样本.
- 针对三酶,CD30,CD123,PD-L1和PD-1进行免疫组织化学染色.
- 使用基因特异性聚合酶链反应和滴滴数字聚合酶链反应 (ddPCR) 检测KIT D816V突变.
- 胃肠道活检结果与骨髓 (BM) SM状态的相关性.
主要成果:
- 在19%的胃肠道活检样本中发现了巨细胞瘤,而16%的样本最初错过了.
- 三酶在三分之二的巨细胞瘤阳性肠道活检中呈微阳性或阴性.
- 在显著比例的肠道巨细胞瘤病例中检测到KIT D816V突变 (PCR 7/13, ddPCR 12/13).
- 胃肠道巨细胞瘤显示高的积极预测值 (95%) 和特异性 (98%) 的MS在BM.
结论:
- 胃肠道巨细胞症在骨髓中高度预测MS.
- 大多数患有MS和骨髓干扰 (SM-BM+) 的患者对GI巨细胞瘤 (SM-GI-) 呈阴性.
- 没有BMSM (SM-BM-) 的患者不太可能患有肠道肠道巨细胞症.
- 胃肠道巨细胞症的诊断评估应包括CD117和CD25免疫组织化学,并可能通过ddPCR进行KIT D816V突变分析,特别是当三酶阴性时.
相关概念视频
01:20Histology of the Gastrointestinal (GI) Tract
3.2K
The GI tract, from beginning to end, is made up of four continuous tissue layers that adjust their structure according to their specific roles. These layers, from innermost to outermost, are known as the mucosa, submucosa, muscularis, and serosa, which are continuous with the mesentery.
The mucosa is sometimes called a mucous membrane due to its mucus-secreting features. This membrane is composed of epithelium, which directly interacts with ingested substances, and the lamina propria, a layer...
The mucosa is sometimes called a mucous membrane due to its mucus-secreting features. This membrane is composed of epithelium, which directly interacts with ingested substances, and the lamina propria, a layer...
3.2K
01:20Gastrointestinal Motility Disorders
1.1K
Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...
1.1K
01:25Mucosal Barrier of the Stomach
2.0K
The gastric glands contain parietal cells that secrete hydrochloric acid (HCl) for digestion. The cells secrete HCl because it is highly corrosive and essential for breaking down food. To achieve this, they secrete hydrogen and chloride ions into the lumen of the gastric glands, which combine to form HCl.
Within parietal cells, carbonic acid is first formed through the reaction of water and carbon dioxide. The dissociation of carbonic acid releases bicarbonate and hydrogen ions. The bicarbonate...
Within parietal cells, carbonic acid is first formed through the reaction of water and carbon dioxide. The dissociation of carbonic acid releases bicarbonate and hydrogen ions. The bicarbonate...
2.0K
01:26Stomach Histology
2.9K
The stomach comprises several layers that work together to facilitate digestion and protect the organ. The outermost layer is called the serosa, which provides support and protection to the stomach. The muscularis externa layer is responsible for the mechanical breakdown of food by contracting and moving the stomach. The submucosa layer, located beneath the muscularis externa, contains connective tissue, blood vessels, nerves, and glands that secrete mucus and other substances essential for...
2.9K
01:26Histology of the Large Intestine
2.8K
The large intestine, a vital component of the gastrointestinal tract, is structured with four main layers: the mucosa, submucosa, muscularis, and serosa. Each layer performs a distinct role in facilitating the smooth functioning of the large intestine.
The innermost mucosa layer comprises simple columnar epithelium, lamina propria, and muscularis mucosae. This layer is primarily populated with absorptive cells, tasked with water absorption, and goblet cells, responsible for secreting mucus to...
The innermost mucosa layer comprises simple columnar epithelium, lamina propria, and muscularis mucosae. This layer is primarily populated with absorptive cells, tasked with water absorption, and goblet cells, responsible for secreting mucus to...
2.8K
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
718
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
718