Home > Publications database > Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q. > print |
001 | 167455 | ||
005 | 20240229133541.0 | ||
024 | 7 | _ | |a 10.1093/neuonc/noab034 |2 doi |
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037 | _ | _ | |a DKFZ-2021-00359 |
041 | _ | _ | |a eng |
082 | _ | _ | |a 610 |
100 | 1 | _ | |a Baroni, Lorena |b 0 |
245 | _ | _ | |a Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q. |
260 | _ | _ | |a Oxford |c 2021 |b Oxford Univ. Press |
336 | 7 | _ | |a article |2 DRIVER |
336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1628160560_25573 |2 PUB:(DE-HGF) |
336 | 7 | _ | |a ARTICLE |2 BibTeX |
336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
500 | _ | _ | |a 2021 Aug 2;23(8):1360-1370 |
520 | _ | _ | |a Within PF-EPN-A, 1q gain is a marker of poor prognosis, however, it is unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification.Five independent non-overlapping cohorts of PF-EPN-A were analyzed applying genome wide methylation arrays for chromosomal and clinical variables predictive of survival.Across all cohorts, 663 PF-EPN-A were identified. The most common broad copy number event was 1q gain (18.9%), followed by 6q loss (8.6%), 9p gain (6.5%), and 22q loss (6.8%). Within 1q gain tumors, there was significant enrichment for 6q loss (17.7%), 10q loss (16.9%) and 16q loss (15.3%). The 5-year progression free survival (PFS) was strikingly worse in those patients with 6q loss, with a 5-year PFS of 50% (95%CI 45-55%) for balanced tumors, compared with 32% (95%CI 24-44%) for 1q gain only, 7.3% (95%CI 2.0-27%) for 6q loss only and 0 for both 1q gain and 6q loss (p=1.65x10 -13 ). After accounting for treatment, 6q loss remained the most significant independent predictor of survival in PF-EPN-A but is not in PF-EPN-B. Distant relapses were more common in 1q gain irrespective of 6q loss. RNA-sequencing comparing 6q loss to 6q balanced PF-EPN-A suggests that 6q loss forms a biologically distinct group.We have identified an ultra high-risk PF-EPN-A ependymoma subgroup, which can be reliably ascertained using cytogenetic markers in routine clinical use. A change in treatment paradigm is urgently needed for this particular subset of PF-EPN-A where novel therapies should be prioritized for upfront therapy. |
536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
650 | _ | 7 | |a 1q gain |2 Other |
650 | _ | 7 | |a 6qloss |2 Other |
650 | _ | 7 | |a PFA |2 Other |
650 | _ | 7 | |a PFB |2 Other |
650 | _ | 7 | |a ependymoma |2 Other |
650 | _ | 7 | |a posterior fossa |2 Other |
650 | _ | 7 | |a subgrouping |2 Other |
700 | 1 | _ | |a Sundaresan, Lakshmikirupa |b 1 |
700 | 1 | _ | |a Heled, Ayala |b 2 |
700 | 1 | _ | |a Coltin, Hallie |b 3 |
700 | 1 | _ | |a Pajtler, Kristian W |0 P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d |b 4 |u dkfz |
700 | 1 | _ | |a Lin, Tong |b 5 |
700 | 1 | _ | |a Merchant, Thomas E |b 6 |
700 | 1 | _ | |a McLendon, Roger |b 7 |
700 | 1 | _ | |a Faria, Claudia |b 8 |
700 | 1 | _ | |a Buntine, Molly |b 9 |
700 | 1 | _ | |a White, Christine L |b 10 |
700 | 1 | _ | |a Pfister, Stefan M |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 11 |u dkfz |
700 | 1 | _ | |a Gilbert, Mark R |b 12 |
700 | 1 | _ | |a Armstrong, Terri S |b 13 |
700 | 1 | _ | |a Bouffet, Eric |b 14 |
700 | 1 | _ | |a Kumar, Sachin |b 15 |
700 | 1 | _ | |a Taylor, Michael D |b 16 |
700 | 1 | _ | |a Aldape, Kenneth D |b 17 |
700 | 1 | _ | |a Ellison, David W |b 18 |
700 | 1 | _ | |a Gottardo, Nicholas G |b 19 |
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700 | 1 | _ | |a Hansford, Jordan R |b 22 |
700 | 1 | _ | |a Ramaswamy, Vijay |b 23 |
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