Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study
Cell free DNA (cfDNA) and circulating tumor cell free DNA (ctDNA) from blood (plasma) are increasingly being used in oncology for diagnosis, monitoring response, identifying cancer causing mutations and detecting recurrences. Circulating tumor RB1 DNA (ctDNA) is found in the blood (plasma) of retino...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2023-01-01
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| Series: | PLoS ONE |
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9897525/?tool=EBI |
| _version_ | 1811170962830262272 |
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| author | David H. Abramson Diana L. Mandelker A. Rose Brannon Ira J. Dunkel Ryma Benayed Michael F. Berger Maria E. Arcila Marc Ladanyi Danielle Novetsky Friedman Gowtham Jayakumaran Monica S. Diosdado Melissa A. Robbins Dianna Haggag-Lindgren Neerav Shukla Michael F. Walsh Prachi Kothari Dana W. Y. Tsui Jasmine H. Francis |
| author_facet | David H. Abramson Diana L. Mandelker A. Rose Brannon Ira J. Dunkel Ryma Benayed Michael F. Berger Maria E. Arcila Marc Ladanyi Danielle Novetsky Friedman Gowtham Jayakumaran Monica S. Diosdado Melissa A. Robbins Dianna Haggag-Lindgren Neerav Shukla Michael F. Walsh Prachi Kothari Dana W. Y. Tsui Jasmine H. Francis |
| author_sort | David H. Abramson |
| collection | DOAJ |
| description | Cell free DNA (cfDNA) and circulating tumor cell free DNA (ctDNA) from blood (plasma) are increasingly being used in oncology for diagnosis, monitoring response, identifying cancer causing mutations and detecting recurrences. Circulating tumor RB1 DNA (ctDNA) is found in the blood (plasma) of retinoblastoma patients at diagnosis before instituting treatment (naïve). We investigated ctDNA in naïve unilateral patients before enucleation and during enucleation (6 patients/ 8 mutations with specimens collected 5–40 minutes from severing the optic nerve) In our cohort, following transection the optic nerve, ctDNA RB1 VAF was measurably lower than pre-enucleation levels within five minutes, 50% less within 15 minutes and 90% less by 40 minutes. |
| first_indexed | 2024-04-10T17:05:33Z |
| format | Article |
| id | doaj.art-b858b49334b643c98b038e1cf844b494 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-10T17:05:33Z |
| publishDate | 2023-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-b858b49334b643c98b038e1cf844b4942023-02-06T05:31:06ZengPublic Library of Science (PLoS)PLoS ONE1932-62032023-01-01182Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot studyDavid H. AbramsonDiana L. MandelkerA. Rose BrannonIra J. DunkelRyma BenayedMichael F. BergerMaria E. ArcilaMarc LadanyiDanielle Novetsky FriedmanGowtham JayakumaranMonica S. DiosdadoMelissa A. RobbinsDianna Haggag-LindgrenNeerav ShuklaMichael F. WalshPrachi KothariDana W. Y. TsuiJasmine H. FrancisCell free DNA (cfDNA) and circulating tumor cell free DNA (ctDNA) from blood (plasma) are increasingly being used in oncology for diagnosis, monitoring response, identifying cancer causing mutations and detecting recurrences. Circulating tumor RB1 DNA (ctDNA) is found in the blood (plasma) of retinoblastoma patients at diagnosis before instituting treatment (naïve). We investigated ctDNA in naïve unilateral patients before enucleation and during enucleation (6 patients/ 8 mutations with specimens collected 5–40 minutes from severing the optic nerve) In our cohort, following transection the optic nerve, ctDNA RB1 VAF was measurably lower than pre-enucleation levels within five minutes, 50% less within 15 minutes and 90% less by 40 minutes.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9897525/?tool=EBI |
| spellingShingle | David H. Abramson Diana L. Mandelker A. Rose Brannon Ira J. Dunkel Ryma Benayed Michael F. Berger Maria E. Arcila Marc Ladanyi Danielle Novetsky Friedman Gowtham Jayakumaran Monica S. Diosdado Melissa A. Robbins Dianna Haggag-Lindgren Neerav Shukla Michael F. Walsh Prachi Kothari Dana W. Y. Tsui Jasmine H. Francis Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study PLoS ONE |
| title | Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study |
| title_full | Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study |
| title_fullStr | Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study |
| title_full_unstemmed | Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study |
| title_short | Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study |
| title_sort | mutant rb1 circulating tumor dna in the blood of unilateral retinoblastoma patients what happens during enucleation surgery a pilot study |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9897525/?tool=EBI |
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