FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4282971036> ?p ?o ?g. }

• W4282971036 endingPage "5668" @default.
• W4282971036 startingPage "5668" @default.
• W4282971036 abstract "Abstract Background For a long time, the use of immune checkpoint inhibitors(ICIs)has been limited in sarcomas and bone tumors, and is only recommended as second or later line therapy for patients who meet specific requirements such as dMMR/MSI-H. DNA damage response (DDR) pathways aim to protect cells against some acquired genome changes and monitor exogenous or endogenous DNA damage. Studies have reported that genomic instability caused by DDR gene mutations effects on the immune system, and may benefit from ICI treatment. Although some studies have reported that DDR gene mutations in solid tumors such as non-small cell lung cancer and bladder cancer predicted response to ICI and correlated with patient prognosis, reports are lacking in sarcomas and bone tumors. Methods Formalin-fixed, paraffin-embedded tissues and matched blood samples were collected from patients with sarcoma or bone tumor for targeted next-generation sequencing assay at OrigiMed (Shanghai, China), a College of American Pathologists accredited and Clinical Laboratory Improvement Amendments certified laboratory. PD-L1 expression was detected by immunohistochemistry using 22C3 antibody. Results Fifteen patients including 12 male and 3 female with a median age of 22 years were recruited. Among them, 9 patients had bone tumors with a median age of 17 years. PD-L1 was tested in 13 patients and 10 patients were positive.Genetic testing showed that TP53, BRCA1, and CCND3 were the most frequently mutated genes. The analysis of pathways showed that DDR (11/15), cell cycle (7/15), NOTCH (4/15), RTK.RAS (415) were the most affected pathways. The median TMB was 1.6 muts/Mb. In DDR genes, TP53 mutations occurred in 8 patients including 2 soft tissue sarcomas and 6 bone tumors. BRCA1 gene fusions occurred in 2 osteosarcoma patients, one is 7-year-old boy who carried 3 BRCA1 fusions with ASIC2, LUZP6 and OXCT1 fusion partners. The boy also carried TP53 germline pathogenic mutations. Another 17-year-old boy carried a BRCA1-TMEM271 fusion, and PTEN and STK11 DDR gene mutations. Among the 11 sarcoma patients with DDR mutations, 8 were PD-L1 positive and 1 was PD-L1 negative. PD-L1 testing was not performed in other 2 cases. Conclusion Our results showed that a proportion of sarcoma and bone tumor patients carried DDR gene mutations, especially in pediatric and adolescent osteosarcoma patients.The majority of sarcoma and bone tumor patients with DDR gene mutations in this cohort were PD-L1 positive. Since DDR gene mutation was associated with favorable response rate to ICIs, patients with DDR gene mutated sarcoma and bone tumor may benefit from ICIs therapy. Citation Format: Fanfei Meng, Qing Zhang, Fei Pang, Xiaoliang Shi. DNA damage response gene mutations and their association with PD-L1 expression in sarcoma and bone tumor [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 5668." @default.
• W4282971036 created "2022-06-17" @default.
• W4282971036 creator A5025851882 @default.
• W4282971036 creator A5030928875 @default.
• W4282971036 creator A5062662176 @default.
• W4282971036 creator A5077254621 @default.
• W4282971036 date "2022-06-15" @default.
• W4282971036 modified "2023-09-25" @default.
• W4282971036 title "Abstract 5668: DNA damage response gene mutations and their association with PD-L1 expression in sarcoma and bone tumor" @default.
• W4282971036 doi "https://doi.org/10.1158/1538-7445.am2022-5668" @default.
• W4282971036 hasPublicationYear "2022" @default.
• W4282971036 type Work @default.
• W4282971036 citedByCount "0" @default.
• W4282971036 crossrefType "journal-article" @default.
• W4282971036 hasAuthorship W4282971036A5025851882 @default.
• W4282971036 hasAuthorship W4282971036A5030928875 @default.
• W4282971036 hasAuthorship W4282971036A5062662176 @default.
• W4282971036 hasAuthorship W4282971036A5077254621 @default.
• W4282971036 hasConcept C104317684 @default.
• W4282971036 hasConcept C121608353 @default.
• W4282971036 hasConcept C126322002 @default.
• W4282971036 hasConcept C142724271 @default.
• W4282971036 hasConcept C143425029 @default.
• W4282971036 hasConcept C143998085 @default.
• W4282971036 hasConcept C2776256026 @default.
• W4282971036 hasConcept C2778256501 @default.
• W4282971036 hasConcept C2909636867 @default.
• W4282971036 hasConcept C2994225774 @default.
• W4282971036 hasConcept C501734568 @default.
• W4282971036 hasConcept C502942594 @default.
• W4282971036 hasConcept C54355233 @default.
• W4282971036 hasConcept C552990157 @default.
• W4282971036 hasConcept C71924100 @default.
• W4282971036 hasConcept C86803240 @default.
• W4282971036 hasConceptScore W4282971036C104317684 @default.
• W4282971036 hasConceptScore W4282971036C121608353 @default.
• W4282971036 hasConceptScore W4282971036C126322002 @default.
• W4282971036 hasConceptScore W4282971036C142724271 @default.
• W4282971036 hasConceptScore W4282971036C143425029 @default.
• W4282971036 hasConceptScore W4282971036C143998085 @default.
• W4282971036 hasConceptScore W4282971036C2776256026 @default.
• W4282971036 hasConceptScore W4282971036C2778256501 @default.
• W4282971036 hasConceptScore W4282971036C2909636867 @default.
• W4282971036 hasConceptScore W4282971036C2994225774 @default.
• W4282971036 hasConceptScore W4282971036C501734568 @default.
• W4282971036 hasConceptScore W4282971036C502942594 @default.
• W4282971036 hasConceptScore W4282971036C54355233 @default.
• W4282971036 hasConceptScore W4282971036C552990157 @default.
• W4282971036 hasConceptScore W4282971036C71924100 @default.
• W4282971036 hasConceptScore W4282971036C86803240 @default.
• W4282971036 hasIssue "12_Supplement" @default.
• W4282971036 hasLocation W42829710361 @default.
• W4282971036 hasOpenAccess W4282971036 @default.
• W4282971036 hasPrimaryLocation W42829710361 @default.
• W4282971036 hasRelatedWork W1953458986 @default.
• W4282971036 hasRelatedWork W2359294133 @default.
• W4282971036 hasRelatedWork W2361196183 @default.
• W4282971036 hasRelatedWork W2364402334 @default.
• W4282971036 hasRelatedWork W2377366305 @default.
• W4282971036 hasRelatedWork W2380823799 @default.
• W4282971036 hasRelatedWork W2382362179 @default.
• W4282971036 hasRelatedWork W3021434214 @default.
• W4282971036 hasRelatedWork W3030811265 @default.
• W4282971036 hasRelatedWork W3031478545 @default.
• W4282971036 hasVolume "82" @default.
• W4282971036 isParatext "false" @default.
• W4282971036 isRetracted "false" @default.
• W4282971036 workType "article" @default.