腹膜下硬化管道增生症显示PI3K通路的改变
Baris Boyraz1, Brian Robinson1, Neal Lindeman1
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine/New York Presbyterian Hospital, New York, NY, USA.
Histopathology
|January 31, 2025
概括
腹膜下硬化管道增生症 (SSDH) 呈现PI3K通路变化,类似于其他乳腺病变. 这一遗传发现有助于解释SSDH与非典型增生症和乳腺癌的罕见关联.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 乳腺病理学 乳腺病理学
背景情况:
- 腹膜下硬化管道增生 (SSDH) 是一种罕见的病变,于1987年首次描述.
- 关于SSDH的研究有限,没有先前的遗传调查.
研究的目的:
- 为了进行第一个基因分析Subareolar硬化管道增多症 (SSDH).
- 为了确定SSDH的遗传变化,并将其与其他乳腺病变进行比较.
主要方法:
- 在7例SSDH病例中进行了523个基因的下一代测序.
- 分析了患者的人口统计和病变特征.
主要成果:
- 所有七例SSDH病例 (40-74岁) 都显示PI3K路径的改变.
- 在PIK3CA,PIK3R1和PIK3C3基因中发现了突变.
- 在研究的SSDH病变中没有观察到非典型的增生或癌症.
结论:
- SSDH与其他增殖性乳腺病变和瘤共享PI3K通路变化.
- 这些遗传相似性可能解释SSDH与非典型增生症和乳腺癌的罕见关联.
相关概念视频
PI3K/mTOR/AKT Signaling Pathway
3.4K
The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast, mTORC2 consists of a...
3.4K
Abnormal Proliferation
4.4K
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...
4.4K
mTOR Signaling and Cancer Progression
3.7K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
3.7K
Hedgehog Signaling Pathway
7.3K
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
7.3K
Interactions Between Signaling Pathways
6.2K
Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
6.2K
The JAK-STAT Signaling Pathway
8.6K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as SH2...
8.6K


