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Conference Paper: Meta-analysis of pineal region tumours demonstrates molecular subgroups with distinct clinico-pathological features: a consensus study

TitleMeta-analysis of pineal region tumours demonstrates molecular subgroups with distinct clinico-pathological features: a consensus study
Authors
Keywordsbrain tumors
adult
origin of life
child
genes
Issue Date2020
PublisherOxford University Press. The Journal's web site is located at https://academic.oup.com/neuro-oncology
Citation
The 19th International Symposium on Pediatric Neuro-Oncology (ISPNO) 2020, Karuizawa, Japan, 13-16 December 2020. In Neuro-Oncology, 2020, v. 22 n. Suppl. 3, p. iii327 How to Cite?
AbstractPineoblastomas (PB) are rare, aggressive pineal gland tumours with poor global OS of 50–70% and only 15–49% OS for patients <4 years, despite intensive treatments. Recently, three independent groups (German Cancer Research Centre, Rare Brain Tumour Consortium/SickKids, St. Jude Children’s Research Hospital) collectively analyzed large tumour cohorts and revealed molecular sub-groups of PB. To harmonize and better characterize clinico-pathologic associations of these sub-groups, we undertook a meta-analysis of molecular and clinical data of the combined cohorts. Unsupervised consensus cluster analyses of global methylation data from 227 unique cases identified five robust molecular sub-groups of pineal region tumours: PB_miRNA_1, PB_miRNA_2, PB_MYC/FOXR2, and PB_RB, mainly comprised of pediatric WHO grade 4 PBs and PNETs; and a fifth group: named PPTID, comprised of mainly pineal parenchymal tumours of intermediate differentiation, a WHO grade 2–3 tumour common in adults. PB_miRNA_1 and PB_miRNA_2 tumours, primarily arising in children (median ages 7.7, 11.4y, respectively), were characterized by alterations of miRNA biogenesis genes DICER1, DROSHA, and DGCR8. PB_MYC/FOXR2 and PB_RB groups, arising in infants/toddlers (median ages 1.4, 2.0y, respectively), were distinguished by recurrent MYC gain/amplification and RB1 loss, respectively. The PPTID group affected mainly adults (median age 33y) and exhibited limited CNAs. Higher rates of metastasis were observed with PB_miRNA_1 (42%), PB_MYC/FOXR2 (38%), and PB_RB (75%) tumours, compared to PB_miRNA_2 (20%) and PPTID (25%). Results from ongoing integrative survival analyses of this large cohort will provide critical data for design of future clinical trials.
DescriptionOral presentation - Section: ETMR and other Embryonal Tumors - no. ETMR-21
Persistent Identifierhttp://hdl.handle.net/10722/287903
ISSN
2019 Impact Factor: 10.247
2015 SCImago Journal Rankings: 3.196

 

DC FieldValueLanguage
dc.contributor.authorLi, BK-
dc.contributor.authorLiu, APY-
dc.contributor.authorPfaff, E-
dc.contributor.authorGudenas, B-
dc.contributor.authorGershanov, S-
dc.contributor.authorDufour, C-
dc.contributor.authorAichmüller, C-
dc.contributor.authorSill, M-
dc.contributor.authorLin, T-
dc.contributor.authorOnar-Thomas, A-
dc.contributor.authorOrr, BA-
dc.contributor.authorHawkins, C-
dc.contributor.authorEllison, DW-
dc.contributor.authorSnuderl, M-
dc.contributor.authorLaquierre, A-
dc.contributor.authorHwang, E-
dc.contributor.authorGururangan, S-
dc.contributor.authorKarajannis, MA-
dc.contributor.authorRobinson, GW-
dc.contributor.authorBouffet, E-
dc.contributor.authorVasiljevic, A-
dc.contributor.authorGajjar, A-
dc.contributor.authorPfister, SM-
dc.contributor.authorNorthcott, PA-
dc.contributor.authorJones, DTW-
dc.contributor.authorHuang, A-
dc.date.accessioned2020-10-05T12:04:55Z-
dc.date.available2020-10-05T12:04:55Z-
dc.date.issued2020-
dc.identifier.citationThe 19th International Symposium on Pediatric Neuro-Oncology (ISPNO) 2020, Karuizawa, Japan, 13-16 December 2020. In Neuro-Oncology, 2020, v. 22 n. Suppl. 3, p. iii327-
dc.identifier.issn1522-8517-
dc.identifier.urihttp://hdl.handle.net/10722/287903-
dc.descriptionOral presentation - Section: ETMR and other Embryonal Tumors - no. ETMR-21-
dc.description.abstractPineoblastomas (PB) are rare, aggressive pineal gland tumours with poor global OS of 50–70% and only 15–49% OS for patients <4 years, despite intensive treatments. Recently, three independent groups (German Cancer Research Centre, Rare Brain Tumour Consortium/SickKids, St. Jude Children’s Research Hospital) collectively analyzed large tumour cohorts and revealed molecular sub-groups of PB. To harmonize and better characterize clinico-pathologic associations of these sub-groups, we undertook a meta-analysis of molecular and clinical data of the combined cohorts. Unsupervised consensus cluster analyses of global methylation data from 227 unique cases identified five robust molecular sub-groups of pineal region tumours: PB_miRNA_1, PB_miRNA_2, PB_MYC/FOXR2, and PB_RB, mainly comprised of pediatric WHO grade 4 PBs and PNETs; and a fifth group: named PPTID, comprised of mainly pineal parenchymal tumours of intermediate differentiation, a WHO grade 2–3 tumour common in adults. PB_miRNA_1 and PB_miRNA_2 tumours, primarily arising in children (median ages 7.7, 11.4y, respectively), were characterized by alterations of miRNA biogenesis genes DICER1, DROSHA, and DGCR8. PB_MYC/FOXR2 and PB_RB groups, arising in infants/toddlers (median ages 1.4, 2.0y, respectively), were distinguished by recurrent MYC gain/amplification and RB1 loss, respectively. The PPTID group affected mainly adults (median age 33y) and exhibited limited CNAs. Higher rates of metastasis were observed with PB_miRNA_1 (42%), PB_MYC/FOXR2 (38%), and PB_RB (75%) tumours, compared to PB_miRNA_2 (20%) and PPTID (25%). Results from ongoing integrative survival analyses of this large cohort will provide critical data for design of future clinical trials.-
dc.languageeng-
dc.publisherOxford University Press. The Journal's web site is located at https://academic.oup.com/neuro-oncology-
dc.relation.ispartofNeuro-Oncology-
dc.relation.ispartofThe 19th International Symposium on Pediatric Neuro-Oncology (ISPNO) 2020-
dc.subjectbrain tumors-
dc.subjectadult-
dc.subjectorigin of life-
dc.subjectchild-
dc.subjectgenes-
dc.titleMeta-analysis of pineal region tumours demonstrates molecular subgroups with distinct clinico-pathological features: a consensus study-
dc.typeConference_Paper-
dc.identifier.emailLiu, APY: apyliu@hku.hk-
dc.identifier.authorityLiu, APY=rp01357-
dc.description.natureabstract-
dc.identifier.doi10.1093/neuonc/noaa222.224-
dc.identifier.hkuros314988-
dc.identifier.volume22-
dc.identifier.issueSuppl. 3-
dc.identifier.spageiii327-
dc.identifier.epageiii327-
dc.publisher.placeUnited States-

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