Toward Systems Pathology for PTEN Diagnostics

Haddadi, Nahal; Travis, Glena; Nassif, Najah T.; Simpson, Ann M.; Marsh, Deborah J.

doi:10.1101/cshperspect.a037127

Cited by 5 publications

(9 citation statements)

References 129 publications

(150 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In this condition, an increased risk for malignant tumors has not been demonstrated yet. Similar mutation patterns in PTEN can be observed in both Cowden and Bannayan-Riley-Ruvalcaba syndromes, suggesting that these two autosomal dominant disorders are related to allelic disorders [89]. Lhermitte-Duclos disease is characterized by hamartomatous outgrowths of the cerebellum (cerebellar dysplastic gangliocytoma) [94,95].…”

Section: Phenotypic Variability In Pten Germline Mutation Carriers Anmentioning

confidence: 77%

“…Since then, several other PTEN-related hamartoma tumor syndromes (PHTS) have been identified [88]. These patients show multiple hamartomas in a variety of anatomic sites and have characteristic cutaneous manifestations, such as trichilemmomas, oral fibromas, and punctate palmoplantar keratoses [89]. According to Tan et al and Bubien et al, these patients present an increased estimated lifetime risk of breast cancer of around 80%, while the lifetime risk for thyroid cancer is approximately 30% [90,91].…”

Section: Phenotypic Variability In Pten Germline Mutation Carriers Anmentioning

confidence: 99%

See 1 more Smart Citation

PTEN Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

Fusco

Sajjadi

Venetis

et al. 2020

Genes

View full text Add to dashboard Cite

Alterations in the tumor suppressor phosphatase and tensin homolog (PTEN) occur in a substantial proportion of solid tumors. These events drive tumorigenesis and tumor progression. Given its central role as a downregulator of the phosphoinositide 3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway, PTEN is deeply involved in cell growth, proliferation, and survival. This gene is also implicated in the modulation of the DNA damage response and in tumor immune microenvironment modeling. Despite the actionability of PTEN alterations, their role as biomarkers remains controversial in clinical practice. To date, there is still a substantial lack of validated guidelines and/or recommendations for PTEN testing. Here, we provide an update on the current state of knowledge on biologic and genetic alterations of PTEN across the most frequent solid tumors, as well as on their actual and/or possible clinical applications. We focus on possible tailored schemes for cancer patients’ clinical management, including risk assessment, diagnosis, prognostication, and treatment.

show abstract

Section: Phenotypic Variability In Pten Germline Mutation Carriers Anmentioning

confidence: 77%

Section: Phenotypic Variability In Pten Germline Mutation Carriers Anmentioning

confidence: 99%

PTEN Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

Fusco

Sajjadi

Venetis

et al. 2020

Genes

View full text Add to dashboard Cite

show abstract

“…After PI3K activates the intracellular signaling pathway, AKT, the downstream effector, is activated [10,11]. As the negative regulator of the PI3K/AKT/mTOR signaling pathway, phosphatase and tensin homology deleted on chromosome ten (PTEN) could inhibit the activity of PI3K and AKT [12].…”

Section: Introductionmentioning

confidence: 99%

“…Neural Plasticity so on, which are crucial to mediating many aspects of cell function, including cell survival, proliferation, growth, metabolism, angiogenesis, and metastasis [10][11][12]18]. PI3K is the upstream promoter of the PI3K/AKT/mTOR signaling pathway [19].…”

mentioning

confidence: 99%

“…Under the effect of stress from the outside, activated by coupling with receptor tyrosine kinases (RTKs), PI3K phosphorylate PtdIns(4,5)P2 (PIP2) to form PtdIns(3,4,5)P3 (PI3P), a second messenger, which could activate AKT [10]. The phosphorylated PTEN, a negative regulator, could inhibit the PI3K/AKT signaling pathway by dephosphorylating PIP3 [12]. Activated AKT could regulate cell function by phosphorylating downstream factors such as enzymes, kinases, and transcription factors [11].…”

mentioning

confidence: 99%

See 1 more Smart Citation

Effect of Electroacupuncture Treatment at Dazhui (GV14) and Mingmen (GV4) Modulates the PI3K/AKT/mTOR Signaling Pathway in Rats after Spinal Cord Injury

Liu

Song

et al. 2020

Neural Plasticity

View full text Add to dashboard Cite

Electroacupuncture (EA) is widely recognized as clinical treatment of spinal cord injury (SCI). The purpose of this study is to elucidate whether and how the PI3K/AKT/mTOR signaling pathway plays any role in EA treating SCI. Rats were randomly divided into four equal groups: Control Group, Sham-operation Group, Model Group, and EA Group, then further randomly divided into the following subgroups: 1-day (n=12), 1-day rapamycin (n=6), 14-day (n=18), and 28-day (n=18). A rat model of SCI was established by a modified Allen’s weight-drop method. In the EA Group, rats were stimulated on Dazhui (GV14) and Mingmen (GV4) for 20 min by sterilized stainless steel needles. In the EA Group, the Basso, Beattie, and Bresnahan locomotor rating scale showed obvious improved locomotor function, and hematoxylin-eosin staining and magnetic resonance imaging showed that the histological morphology change of injured spinal cord tissue was obviously alleviated. Also, blocking spinal mTOR by injection of rapamycin showed that mTOR existed in the injured spinal cord, and EA could significantly activate mTOR in SCI rats. And immunohistochemistry and western blot analysis on the PI3K/AKT/mTOR signaling pathway showed that levels of PI3K, AKT, mTOR, and p70S6K in the injured spinal cord tissue were greatly increased in the EA Group, while the levels of PTEN and caspase 3 were decreased. The present study suggests that EA could affect cell growth, apoptosis, and autophagy through the PI3K/AKT/mTOR signaling pathway.

show abstract

Lung Disease

Ming

Sun

Ding

et al. 2021

Clinical Molecular Diagnostics

View full text Add to dashboard Cite

Toward Systems Pathology for PTEN Diagnostics

Abstract: PHTS is an umbrella term used to describe a set of rare autosomal-dominant mutant PTENassociated syndromes (Yehia and Eng 2018).

Cited by 5 publications

References 129 publications

PTEN Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

PTEN Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

Effect of Electroacupuncture Treatment at Dazhui (GV14) and Mingmen (GV4) Modulates the PI3K/AKT/mTOR Signaling Pathway in Rats after Spinal Cord Injury

Lung Disease

Contact Info

Product

Resources

About