Platelet-derived growth factor receptors (PDGFRs) fusion genes involvement in hematological malignancies

Appiah-Kubi, Kwaku; Lan, Ting; Wang, Ying; Qian, Hai; Wu, Min; Yao, Xiaoyuan; Wu, Yan; Chen, Yongchang

doi:10.1016/j.critrevonc.2016.11.008

Cited by 34 publications

(31 citation statements)

References 112 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The Platelet‐derived growth factors (PDGFs) and their receptors (PDGFRs) are not exceptions in their immense role in tumorigenesis. The PDGFs and PDGFRs have shown gene fusion involvement mainly in hematological malignancies, drug resistance in cancer treatments, prognostic and treatment response markers of some cancers with multifarious therapeutic targets in cancer (Appiah‐Kubi et al, , ; Wang et al, ). The PDGFs and PDGFRs are associated with a host of clinical variables and are shown as prognostic indicators in gastric cancer (Suzuki et al, ; Daniels et al, ; Wozniak et al, ; Guo et al, ; Kurokawa et al, ; Ogawa et al, ).…”

Section: Introductionmentioning

confidence: 99%

PKG II inhibits PDGF‐BB triggered biological activities by phosphorylating PDGFRβ in gastric cancer cells

Wang

Appiah-Kubi

Lan

et al. 2018

Cell Biology International

Self Cite

View full text Add to dashboard Cite

Previous studies revealed that type II cGMP-dependent protein kinase G (PKG II) could inhibit the activation of epidermal growth factor receptor (EGFR) which is a widely investigated RTK. PDGFR belongs to family of receptor tyrosine kinases (RTKs) too. However, the effect of PKG II on PDGFR activation is not clear yet. This study investigated potential regulatory effect of PKG II on activation of PDGFRβ and the downstream signaling transductions in gastric cancer. The results from CCK8 assay and Transwell assay indicated that PDGF-BB induced cell proliferation and migration. Activated PKG II reversed the above variations caused by PDGF-BB. Immunoprecipitation and Western blotting results showed that PKG II combined with PDGFRβ and phosphorylated this receptor, and thereby inhibited PDGF-BB induced activation of PDGFRβ, and MAPK/ERK and PI3K/Akt mediated signal transduction pathways. Based on the prediction by phosphorylation site software, Ser643 and Ser712 were mutated to alanine respectively which prevented phosphorylation at these sites. Mutation at Ser712 abolished the inhibitory function of PKG II on PDGFRβ activation but mutation of Ser643 had no such an effect, indicating that Ser712 was PKG II-specific phosphorylating site of PDGFRβ. In conclusion, PKG II inhibited PDGFRβ activation in gastric cancer via phosphorylating Ser712 of this RTK.

show abstract

Section: Introductionmentioning

confidence: 99%

PKG II inhibits PDGF‐BB triggered biological activities by phosphorylating PDGFRβ in gastric cancer cells

Wang

Appiah-Kubi

Lan

et al. 2018

Cell Biology International

Self Cite

View full text Add to dashboard Cite

show abstract

“…Furthermore, several studies have shown that in patients with PFBC, PDGFB and PDGFRB variants lead to decreased PDGF-B/PDGFRβ signaling [22–24]. In contrast, increased signaling is associated with cancers, infantile myofibromatosis, Kosaki overgrowth syndrome and Penttinen syndrome [11–13, 25, 26].…”

Section: Discussionmentioning

confidence: 99%

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

et al. 2019

View full text Add to dashboard Cite

Background Primary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically heterogeneous disease and patients are reported to exhibit a wide spectrum of neurological and psychiatric symptoms. Mutations in five genes have been identified so far including SLC20A2, PDGFRB, PDGFB, XPR1 , and MYORG . PDGFRB encodes the platelet-derived growth factor receptor-beta, and is expressed in neurons, vascular smooth muscle cells and pericytes. Patients with a PDGFRB mutation seem to exhibit a milder phenotype and milder brain calcification on brain imaging than patients with SLC20A2 and PDGFB mutations. However, this is based on a few observations so far. Case presentation We present a Danish family with bilateral brain calcifications and mild clinical symptoms of primary familial brain calcification, segregating with a novel PDGFRB sequence variant: c.1834G > A; p.(Gly612Arg), detected by whole exome sequencing. The variant results in physiochemical changes at the amino acid level, and affects a highly conserved nucleotide as well as amino acid. It is located in the tyrosine kinase domain of PDGFRβ. Segregation analysis and in silico analyses predicted the missense variant to be disease causing. Conclusion Our study confirms that PDGFRB mutation carriers in general have a mild clinical phenotype, and basal ganglia calcifications can be detected by a CT scan, also in asymptomatic mutation carriers.

show abstract

“…Recently, germline mutations in PDGFRB have been associated with a novel overgrowth syndrome, named Kosaki overgrowth syndrome (10,11). The PDGFRB gene has also been found to fuse with more than 36 other genes, and they are involved in many myeloid and/or lymphoid neoplasms (12).…”

Section: Case Reportmentioning

confidence: 99%

Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation

Zhang

Zheng²,

Wang³

et al. 2018

Acta Derm Venerol

View full text Add to dashboard Cite

show abstract

Platelet-derived growth factor receptors (PDGFRs) fusion genes involvement in hematological malignancies

Cited by 34 publications

References 112 publications

PKG II inhibits PDGF‐BB triggered biological activities by phosphorylating PDGFRβ in gastric cancer cells

PKG II inhibits PDGF‐BB triggered biological activities by phosphorylating PDGFRβ in gastric cancer cells

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation

Contact Info

Product

Resources

About