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

Leanne de Kock¹, Barbara Rivera^{2

3

4}, William D Foulkes^{5

6

7

8}

Affiliations

¹ Harry Perkins Institute of Medical Research, QEII Medical Centre, Centre for Medical Research, University of Western Australia, Perth, WA, Australia.
² Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
³ Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada.
⁴ Cancer Axis, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Côte-Sainte-Catherine Road, Montreal, QC, H3T 1E2, Canada.
⁵ Department of Human Genetics, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.
⁶ Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.
⁷ Cancer Axis, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Côte-Sainte-Catherine Road, Montreal, QC, H3T 1E2, Canada. william.foulkes@mcgill.ca.
⁸ Cancer Research Program, Research Institute of the McGill University Health Centre, Montréal, QC, Canada. william.foulkes@mcgill.ca.

Leanne de Kock et al. Acta Neuropathol. 2020 Jun.

. 2020 Jun;139(6):1115-1118.

doi: 10.1007/s00401-020-02139-5. Epub 2020 Mar 2.

Leanne de Kock¹, Barbara Rivera^{2

3

4}, William D Foulkes^{5

6

7

8}

¹ Harry Perkins Institute of Medical Research, QEII Medical Centre, Centre for Medical Research, University of Western Australia, Perth, WA, Australia.
² Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
³ Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada.
⁴ Cancer Axis, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Côte-Sainte-Catherine Road, Montreal, QC, H3T 1E2, Canada.
⁵ Department of Human Genetics, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.
⁶ Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.
⁷ Cancer Axis, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Côte-Sainte-Catherine Road, Montreal, QC, H3T 1E2, Canada. william.foulkes@mcgill.ca.
⁸ Cancer Research Program, Research Institute of the McGill University Health Centre, Montréal, QC, Canada. william.foulkes@mcgill.ca.

No abstract available

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 - DOI - PubMed - PMC
1. 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 - DOI - PubMed
1. 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 - DOI - PubMed - PMC
1. 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 - DOI - PubMed
1. 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 - DOI - PubMed