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000167588 1001_ $$aLiu, Anthony P Y$$b0
000167588 245__ $$aClinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study.
000167588 260__ $$aHeidelberg$$bSpringer$$c2021
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000167588 500__ $$a2021 May;141(5):771-785 #LA:B360#
000167588 520__ $$aRecent genomic studies have shed light on the biology and inter-tumoral heterogeneity underlying pineal parenchymal tumors, in particular pineoblastomas (PBs) and pineal parenchymal tumors of intermediate differentiation (PPTIDs). Previous reports, however, had modest sample sizes and lacked the power to integrate molecular and clinical findings. The different proposed molecular group structures also highlighted a need to reach consensus on a robust and relevant classification system. We performed a meta-analysis on 221 patients with molecularly characterized PBs and PPTIDs. DNA methylation profiles were analyzed through complementary bioinformatic approaches and molecular subgrouping was harmonized. Demographic, clinical, and genomic features of patients and samples from these pineal tumor groups were annotated. Four clinically and biologically relevant consensus PB groups were defined: PB-miRNA1 (n = 96), PB-miRNA2 (n = 23), PB-MYC/FOXR2 (n = 34), and PB-RB1 (n = 25). A final molecularly distinct group, designated PPTID (n = 43), comprised histological PPTID and PBs. Genomic and transcriptomic profiling allowed the characterization of oncogenic drivers for individual tumor groups, specifically, alterations in the microRNA processing pathway in PB-miRNA1/2, MYC amplification and FOXR2 overexpression in PB-MYC/FOXR2, RB1 alteration in PB-RB1, and KBTBD4 insertion in PPTID. Age at diagnosis, sex predilection, and metastatic status varied significantly among tumor groups. While patients with PB-miRNA2 and PPTID had superior outcome, survival was intermediate for patients with PB-miRNA1, and dismal for those with PB-MYC/FOXR2 or PB-RB1. Reduced-dose CSI was adequate for patients with average-risk, PB-miRNA1/2 disease. We systematically interrogated the clinical and molecular heterogeneity within pineal parenchymal tumors and proposed a consensus nomenclature for disease groups, laying the groundwork for future studies as well as routine use in tumor diagnostic classification and clinical trial stratification.
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000167588 650_7 $$2Other$$aConsensus
000167588 650_7 $$2Other$$aDNA methylation profiling
000167588 650_7 $$2Other$$aMolecular groups
000167588 650_7 $$2Other$$aPineal parenchymal tumors of intermediate differentiation
000167588 650_7 $$2Other$$aPineoblastoma
000167588 650_7 $$2Other$$aRisk-stratification
000167588 7001_ $$aLi, Bryan K$$b1
000167588 7001_ $$0P:(DE-He78)c0538fae462bd98e3cd8d54ed885b0eb$$aPfaff, Elke$$b2
000167588 7001_ $$aGudenas, Brian$$b3
000167588 7001_ $$aVasiljevic, Alexandre$$b4
000167588 7001_ $$aOrr, Brent A$$b5
000167588 7001_ $$aDufour, Christelle$$b6
000167588 7001_ $$aSnuderl, Matija$$b7
000167588 7001_ $$aKarajannis, Matthias A$$b8
000167588 7001_ $$aRosenblum, Marc K$$b9
000167588 7001_ $$aHwang, Eugene I$$b10
000167588 7001_ $$aNg, Ho-Keung$$b11
000167588 7001_ $$aHansford, Jordan R$$b12
000167588 7001_ $$aSzathmari, Alexandru$$b13
000167588 7001_ $$aFaure-Conter, Cécile$$b14
000167588 7001_ $$aMerchant, Thomas E$$b15
000167588 7001_ $$aLevine, Max$$b16
000167588 7001_ $$aBouvier, Nancy$$b17
000167588 7001_ $$avon Hoff, Katja$$b18
000167588 7001_ $$aMynarek, Martin$$b19
000167588 7001_ $$aRutkowski, Stefan$$b20
000167588 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b21
000167588 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b22
000167588 7001_ $$aHawkins, Cynthia$$b23
000167588 7001_ $$aOnar-Thomas, Arzu$$b24
000167588 7001_ $$aRobinson, Giles W$$b25
000167588 7001_ $$aGajjar, Amar$$b26
000167588 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b27
000167588 7001_ $$aBouffet, Eric$$b28
000167588 7001_ $$aNorthcott, Paul A$$b29
000167588 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b30$$eLast author
000167588 7001_ $$aHuang, Annie$$b31
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