ewing sarcoma
Recently Published Documents


TOTAL DOCUMENTS

2984
(FIVE YEARS 899)

H-INDEX

78
(FIVE YEARS 10)

NAR Cancer ◽  
2022 ◽  
Vol 4 (1) ◽  
Author(s):  
Garrett T Graham ◽  
Saravana P Selvanathan ◽  
Stefan K Zöllner ◽  
Emily Stahl ◽  
Adam Shlien ◽  
...  

ABSTRACT Ewing sarcoma (EwS) is a small round blue cell tumor and is the second most frequent pediatric bone cancer. 85% of EwS tumors express the fusion oncoprotein EWS-FLI1, the product of a t(11;22) reciprocal translocation. Prior work has indicated that transcription regulation alone does not fully describe the oncogenic capacity of EWS-FLI1, nor does it provide an effective means to stratify patient tumors. Research using EwS cell lines and patient samples has suggested that EWS-FLI1 also disrupts mRNA biogenesis. In this work we both describe the underlying characteristics of mRNA that are aberrantly spliced in EwS tumor samples as well as catalogue mRNA splicing events across other pediatric tumor types. Here, we also use short- and long-read sequencing to identify cis-factors that contribute to splicing profiles we observe in Ewing sarcoma. Our analysis suggests that GC content upstream of cassette exons is a defining factor of mRNA splicing in EwS. We also describe specific splicing events that discriminate EwS tumor samples from the assumed cell of origin, human mesenchymal stem cells derived from bone marrow (hMSC-BM). Finally, we identify specific splicing factors PCBP2, RBMX, and SRSF9 by motif enrichment and confirm findings from tumor samples in EwS cell lines.


Author(s):  
Munita Bal ◽  
Aekta Shah ◽  
Bharat Rekhi ◽  
Neha Mittal ◽  
Swapnil Ulhas Rane ◽  
...  

2022 ◽  
Author(s):  
Riaz Gillani ◽  
Sabrina Y. Camp ◽  
Seunghun Han ◽  
Jill K. Jones ◽  
Schuyler O'Brien ◽  
...  

More knowledge is needed around the role and importance of specific genes in germline predisposition to Ewing sarcoma to inform biological investigation and clinical practice. In this study, we evaluated the enrichment of pathogenic germline variants in Ewing sarcoma relative to other pediatric sarcoma subtypes, as well as patterns of inheritance of these variants. We carried out an ancestry-matched case-control analysis to screen for enrichment of pathogenic germline variants in 141 established cancer predisposition genes in 1138 individuals with pediatric sarcoma diagnoses (222 Ewing sarcoma cases) relative to identically processed cancer-free controls. Findings in Ewing sarcoma were validated with an additional cohort of 425 individuals, and 301 Ewing sarcoma parent-proband trios were analyzed for inheritance patterns of identified pathogenic variants. A distinct pattern of pathogenic germline variants was seen in Ewing sarcoma relative to other sarcoma subtypes. FANCC was the only gene with an enrichment signal for heterozygous pathogenic variants in the discovery Ewing sarcoma cohort (OR 14.4, 95% CI 3.5 - 51.2, p = 0.002, FDR = 0.28). This enrichment in FANCC heterozygous pathogenic variants was seen again in the Ewing sarcoma validation cohort (OR 5.1, 95% CI 1.2 - 18.5, p = 0.03, single hypothesis), representing a broader importance of genes involved in DNA damage repair, which were also nominally enriched in Ewing sarcoma cases. Pathogenic variants in DNA damage repair genes were acquired through autosomal inheritance. Our study provides new insight into germline risk factors contributing to Ewing sarcoma pathogenesis.


ChemMedChem ◽  
2022 ◽  
Author(s):  
Scott Richard Gilbertson ◽  
Nenggang Zhang ◽  
Keng-Fu Lin ◽  
Christian Yang ◽  
Scott Peruski ◽  
...  
Keyword(s):  

BMC Surgery ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Jun Chen ◽  
Shi-Zhou Wu ◽  
Jie Tan ◽  
Qing-Yi Zhang ◽  
Bo-Quan Qin ◽  
...  

Abstract Background Primary Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumors (pPNETs) are aggressive bone tumors that rarely occur in the axial skeleton, including the cranial bone and mobile spine. The purpose of this study was to investigate whether there were any differences in patient characteristics, treatment strategies, and outcomes between patients with ES/pPNETs of the cranial bone and those with ES/pPNETs of the mobile spine. Methods A retrospective study was performed on 33 patients with ES/pPNETs who had been surgically treated and pathologically confirmed at our institution between 2010 and 2020. Patient characteristics were compared using Fisher exact tests or independent t tests. Survival rates were estimated via Kaplan–Meier survival analysis and compared using log-rank tests. Results Thirteen patients had ES/pPNETs of the cranial bone (39.4%), while 20 patients had ES/pPNETs of the mobile spine (60.6%). Patients with ES/pPNETs of the cranial bone had a younger mean age (14.8 vs 22.6 years; p = 0.047) and longer mean disease duration (2.5 vs 1.9 months; p = 0.008) compared with those of patients with ES/pPNETs of the mobile spine. Kaplan–Meier analysis showed that gross total resection (GTR) and radiotherapy resulted in a longer median survival time. The overall survival rates and progression-free survival rates of patients with ES/pPNETs of the cranial bone versus those of the mobile spine were not significantly different (p = 0.386 and p = 0.368, respectively). Conclusions Patients with ES/pPNETs of the cranial bone were younger compared to patients with ES/pPNETs of the mobile spine. There was no significant difference in the prognosis of patients with ES/pPNETs of the cranial bone versus those of the mobile spine. Taken together, our findings suggest that GTR and radiotherapy offer the best prognosis for improved long-term survival.


2022 ◽  
Author(s):  
Roxane Khoogar ◽  
Fuyang Li ◽  
Yidong Chen ◽  
Myron Ignatius ◽  
Elizabeth R. Lawlor ◽  
...  

2022 ◽  
Author(s):  
Isidro Machado ◽  
Gregory W. Charville ◽  
Akihiko Yoshida ◽  
Samuel Navarro ◽  
Alberto Righi ◽  
...  

Author(s):  
Oxana Schmidt ◽  
Nadja Nehls ◽  
Carolin Prexler ◽  
Kristina von Heyking ◽  
Tanja Groll ◽  
...  

An amendment to this paper has been published and can be accessed via the original article.


2022 ◽  
Vol 21 (1) ◽  
Author(s):  
Florencia Cidre-Aranaz ◽  
Jing Li ◽  
Tilman L. B. Hölting ◽  
Martin F. Orth ◽  
Roland Imle ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document