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Data availability
Data from methylation profiling are available from the corresponding author upon request.
References
Anastas JN, Moon RT (2013) WNT signalling pathways as therapeutic targets in cancer. Nat Rev Cancer 13:11–26. https://doi.org/10.1038/nrc3419
Capper D, Jones DT, Sill M, Hovestadt V, Schrimpf D, Sturm D et al (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474
Gibson P, Tong Y, Robinson G, Thompson MC, Currle DS, Eden C et al (2010) Subtypes of medulloblastoma have distinct developmental origins. Nature 468:1095–1099. https://doi.org/10.1038/nature09587
Li BK, Vasiljevic A, Dufour C, Yao F, Ho BLB, Lu M et al (2020) Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study. Acta Neuropathol 139:223–241. https://doi.org/10.1007/s00401-019-02111-y
Liu APY, Gudenas B, Lin T, Orr BA, Klimo P, Kumar R et al (2020) Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials. Acta Neuropathol 139:259–271. https://doi.org/10.1007/s00401-019-02106-9
Pei Y, Brun SN, Markant SL, Lento W, Gibson P, Taketo MM et al (2012) WNT signaling increases proliferation and impairs differentiation of stem cells in the developing cerebellum. Development 139:1724–1733. https://doi.org/10.1242/dev.050104
Pfaff E, Aichmüller C, Sill M, Stichel D, Snuderl M, Karajannis MA et al (2020) Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations. Acta Neuropathol 139:243–257. https://doi.org/10.1007/s00401-019-02101-0
Priesterbach-Ackley LP, Boldt HB, Petersen JK, Bervoets N, Scheie D, Ulhøi BP et al (2020) Brain tumour diagnostics using a DNA methylation-based classifier as a diagnostic support tool. Neuropathol Appl Neurobiol 46:478–492. https://doi.org/10.1111/nan.12610
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Funding was provided by American Lebanese Syrian Associated Charities and National Cancer Institute Cancer Center Grant (P30CA021765).
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401_2020_2208_MOESM1_ESM.xlsx
Supplementary Table 1. Clinical, radiographic, molecular characteristics and outcome of patients with WNT-activated embryonal tumors of the pineal region
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Supplementary Figure 1. (a) MR image highlighting the solitary focus of metastasis in the right internal auditory canal of patient 7 (white arrow). (b) End of treatment (patients 4 and 5) and on-therapy (patient 6) MR images of patients who underwent biopsy only at diagnosis showing satisfactory treatment response
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Supplementary Figure 2. (a) Hierarchical clustering confirms the epigenomic similarities among our study samples and WNT-activated medulloblastoma (MB-WNT). (b) Composite profiles depicting copy-number variations in WNT-activated pineal tumors and medulloblastomas. MB-G3, Group 3 medulloblastoma; MB-G4, Group 4 medulloblastoma; MB-SHH, SHH-activated medulloblastoma; PB, pineoblastoma (subgroup annotation according to Liu et al. [5])
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Liu, A.P.Y., Priesterbach-Ackley, L.P., Orr, B.A. et al. WNT-activated embryonal tumors of the pineal region: ectopic medulloblastomas or a novel pineoblastoma subgroup?. Acta Neuropathol 140, 595–597 (2020). https://doi.org/10.1007/s00401-020-02208-9
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DOI: https://doi.org/10.1007/s00401-020-02208-9