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Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8

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References

  1. de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S et al (2014) Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol 128:583–595. https://doi.org/10.1007/s00401-014-1318-7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. de Kock L, Wu MK, Foulkes WD (2019) Ten years of DICER1 mutations: provenance, distribution, and associated phenotypes. Hum Mutat 40:1939–1953. https://doi.org/10.1002/humu.23877

    Article  CAS  PubMed  Google Scholar 

  3. Lee JC, Mazor T, Lao R, Wan E, Diallo AB, Hill NS et al (2019) Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma. Acta Neuropathol 137:851–854. https://doi.org/10.1007/s00401-019-01990-5

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Li BK, Vasiljevic A, Dufour C, Yao F, Ho BLB, Lu M et al (2019) 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

    Article  CAS  PubMed  Google Scholar 

  5. Liu APY, Gudenas B, Lin T, Orr BA, Jr Klimo P, Kumar R et al (2019) 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

    Article  CAS  PubMed  Google Scholar 

  6. Palculict TB, Ruteshouser EC, Fan Y, Wang W, Strong L, Huff V (2016) Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour. J Med Genet 53:385–388. https://doi.org/10.1136/jmedgenet-2015-103311

    Article  CAS  PubMed  Google Scholar 

  7. Pfaff E, Aichmuller C, Sill M, Stichel D, Snuderl M, Karajannis MA et al (2019) Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations. Acta Neuropathol 25:1–5. https://doi.org/10.1007/s00401-019-02101-0

    Article  CAS  Google Scholar 

  8. Pugh TJ, Yu W, Yang J, Field AL, Ambrogio L, Carter SL et al (2014) Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. Oncogene 33:5295–5302. https://doi.org/10.1038/onc.2014.150

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Sabbaghian N, Hamel N, Srivastava A, Albrecht S, Priest JR, Foulkes WD (2012) Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. J Med Genet 49:417–419. https://doi.org/10.1136/jmedgenet-2012-100898

    Article  CAS  PubMed  Google Scholar 

  10. Sakaguchi M, Nakano Y, Honda-Kitahara M, Kinoshita M, Tanaka S, Oishi M et al (2019) Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant". Brain Tumor Pathol 36:174–182. https://doi.org/10.1007/s10014-019-00352-z

    Article  CAS  PubMed  Google Scholar 

  11. Snuderl M, Kannan K, Aminova O, Dolgalev I, Heguy A, Faustin A et al (2015) Mb-17 * novel candidate oncogenic drivers in pineoblastoma. Neuro-Oncology 17:iii23. https://doi.org/10.1093/neuonc/nov061.93

    Article  PubMed Central  Google Scholar 

  12. Yates LR, Gerstung M, Knappskog S, Desmedt C, Gundem G, Van Loo P et al (2015) Subclonal diversification of primary breast cancer revealed by multiregion sequencing. Nat Med 21:751–759. https://doi.org/10.1038/nm.3886

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

We thank Drs Anthony Liu, Annie Huang, Bryan Li, David Jones, and Elke Pfaff for providing additional data and clarifications.

Funding

WDF was funded by the Canadian Institutes of Health Research, Foundation Grant FDN-148390. BR received the support of a fellowship (LCF/BQ/PI19/11690009) from “laCaixa” Foundation (ID100010434) and from the Mia Neri Foundation and Cassa di Sovvenzioni e Risparmio fra il Personale della Banca d’Italia.

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Correspondence to William D. Foulkes.

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de Kock, L., Rivera, B. & Foulkes, W.D. Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8. Acta Neuropathol 139, 1115–1118 (2020). https://doi.org/10.1007/s00401-020-02139-5

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