Mutational landscape of primary and recurrent Ewing sarcoma

Jagodzińska-Mucha, Paulina; Sobczuk, Paweł; Mikula, Michał; Raciborska, Anna; Dawidowska, Anna; Kulecka, Maria; Bilska, Katarzyna; Szumera‐Ciećkiewicz, Anna; Kluska, Anna; Piątkowska, Magdalena; Bałabas, Anna; Rutkowski, Piotr; Ługowska, Iwona

doi:10.5114/wo.2021.112234

Cited by 4 publications

(2 citation statements)

References 37 publications

(55 reference statements)

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“…Studies have reported that the most common mutations in Ewing sarcoma are the loss of function of STAG2, TP53, and CDKN2A genes [15]. Moreover, some studies have also indicated that PIK3R1, NOTCH1, and CREBBP are common in recurrent Ewing sarcoma [16]. The functional changes of TP53, PMS2, and RET genes are also important factors in inducing Ewing sarcoma [17].…”

Section: Discussionmentioning

confidence: 99%

Bibliometric analysis of Ewing sarcoma from 1993 to 2022

2023

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Background Ewing sarcoma has attracted more attention in recent years but has yet to be bibliometrically analyzed. Hence, this study investigated the trend of Ewing sarcoma over the past 30 years with bibliometric analysis. Methods Original publications related to Ewing sarcoma were obtained from the Science Citation Index Extension (SCI-E), Social Sciences Citation Index (SSCI), and Web of Science Core Collection (WoSCC) between 1993 and 2022. CiteSpace and VOSviewer were used to extract the countries/regions, institutions, authors, journals, references, and keywords involved in this topic to identify and analyze the research hotspots and trends in this field. Results Over the past 30 years (especially in the past five years), the number of articles published on Ewing sarcoma continued to increase, and the most published country was the United States of America (USA). High-frequency keywords included "Ewing sarcoma", "tumor", "family", "bone", "chemotherapy", "expression", "primitive neuroectodermal tumor", "prognostic factors", "children", and "survival rate". According to the analysis of keyword saliency of Ewing sarcoma, we found that "chromosome translocation", "intergroup", "sarcoma", "genomic landscape", and "children oncology group" were emerging research hotspots. The timeline of the cluster map of co-cited literature indicated that the treatment of Ewing sarcoma emerged as a research hotspot. Conclusion Researchers' understanding of Ewing sarcoma has improved dramatically over the past 30 years. At present, the research hotspots of Ewing sarcoma mainly focus on the aspects of "chromosome translocation", "intergroup", and "sarcoma". In addition, the timeline of the cluster map of co-cited literature indicated the emergence of the treatment of Ewing sarcoma as a research hotspot.

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Section: Discussionmentioning

confidence: 99%

Bibliometric analysis of Ewing sarcoma from 1993 to 2022

2023

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“…Sarcomas typically have reoccurring driver genomic events, covering amplification, mutations, or translocations (Baumhoer et al, 2019;Jagodzinska-Mucha et al, 2021;van der Graaf et al, 2022). For instance, undifferentiated sarcomas frequently undergo recurrent copy number mutations, and deletions of oncogenes, such as TP53, RB1, CDKN2A, and CDKN2B, are common (Hames-Fathi et al, 2022).…”

Section: Discussionmentioning

confidence: 99%

Cuproptosis-associated lncRNAs discern prognosis and immune microenvironment in sarcoma victims

Chu

Zheng

et al. 2022

Front. Cell Dev. Biol.

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Cuproptosis is a fresh form of the copper-elesclomol-triggered, mitochondrial tricarboxylic acid (TCA) dependent cell death. Yet, the subsumed mechanism of cuproptosis-associated lncRNAs in carcinoma is not wholly clarified. Here, We appraised 580 cuproptosis-associated lncRNAs in sarcoma and thereafter construed a module composing of 6 cuproptosis lncRNAs, entitled CuLncScore, utilizing a machine learning methodology. It could outstandingly discern the prognosis of patients in parallel with discriminating tumor immune microenvironment traits. Moreover, we simulate the classification system of cuproptosis lncRNAs by unsupervised learning method to facilitate differentiation of clinical denouement and immunotherapy modality options. Notably, Our Taizhou cohort validated the stability of CuLncScore and the classification system. Taking a step further, we checked these 6 cuproptosis lncRNAs by Quantitative real-time polymerase chain reaction (qRT-PCR) to ascertain their authenticity. All told, our investigations highlight that cuproptosis lncRNAs are involved in various components of sarcoma and assist in the formation of the tumor immune microenvironment. These results provide partial insights to further comprehend the molecular mechanisms of cuproptosis lncRNAs in sarcoma and could be helpful for the development of personalized therapeutic strategies targeting cuproptosis or cuproptosis lncRNAs.

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The Impact of PIK3R1 Mutations and Insulin–PI3K–Glycolytic Pathway Regulation in Prostate Cancer

Chakraborty

Nandakumar

Hirani

et al. 2022

Clinical Cancer Research

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Purpose: Oncogenic alterations of the PI3K/AKT pathway occur in >40% of patients with metastatic castration-resistant prostate cancer, predominantly via PTEN loss. The significance of other PI3K pathway components in prostate cancer is largely unknown. Experimental Design: Patients in this study underwent tumor sequencing using the MSK-IMPACT clinical assay to capture single-nucleotide variants, insertions, and deletions; copy-number alterations; and structural rearrangements, or were profiled through The Cancer Genome Atlas. The association between PIK3R1 alteration/expression and survival was evaluated using univariable and multivariable Cox proportional-hazards regression models. We used the siRNA-based knockdown of PIK3R1 for functional studies. FDG-PET/CT examinations were performed with a hybrid positron emission tomography (PET)/CT scanner for some prostate cancer patients in the MSK-IMPACT cohort. Results: Analyzing 1,417 human prostate cancers, we found a significant enrichment of PIK3R1 alterations in metastatic cancers compared with primary cancers. PIK3R1 alterations or reduced mRNA expression tended to be associated with worse clinical outcomes in prostate cancer, particularly in primary disease, as well as in breast, gastric, and several other cancers. In prostate cancer cell lines, PIK3R1 knockdown resulted in increased cell proliferation and AKT activity, including insulin-stimulated AKT activity. In cell lines and organoids, PIK3R1 loss/mutation was associated with increased sensitivity to AKT inhibitors. PIK3R1-altered patient prostate tumors had increased uptake of the glucose analogue 18F-fluorodeoxyglucose in PET imaging, suggesting increased glycolysis. Conclusions: Our findings describe a novel genomic feature in metastatic prostate cancer and suggest that PIK3R1 alteration may be a key event for insulin–PI3K–glycolytic pathway regulation in prostate cancer.

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Mutational landscape of primary and recurrent Ewing sarcoma

Cited by 4 publications

References 37 publications

Bibliometric analysis of Ewing sarcoma from 1993 to 2022

Bibliometric analysis of Ewing sarcoma from 1993 to 2022

Cuproptosis-associated lncRNAs discern prognosis and immune microenvironment in sarcoma victims

The Impact of PIK3R1 Mutations and Insulin–PI3K–Glycolytic Pathway Regulation in Prostate Cancer

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