About the St Jude’s and German Cancer Institute Study

St Jude’s and the German Cancer Institute undertook a research study of PNETS using molecular profiling.

The study compared the molecular profile of ‘institutionalised PNETs’ (that is PNETs diagnosed under the microscope) to other recognised CNS tumor entities.

The study has been summarised and published in ‘Sturm Cell 2016’ by Dominik Sturm, Brent A. Orr,Umut H. Toprak, David W. Ellison, Andrey Korshunov, Marcel Kool. Scroll down to the bottom of this page to find a link to the article.

Implications of St Jude’s research

  • The majority of PNETs will be reclassified through the use of molecular profiling.
    • Implication: This could lead to better treatment options for some patients as a result of better matching of treatments to underlying tumour pathology.
  • The remaining PNETs will be classified into the 4 new sub groups or into the group ETMR:
    • Implication: “this will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors. “

Key findings

  • ‘A vast majority of PNETS (61%) can be reclassified into other (existing) tumor groups based on their molecular profiling
    • Eg the genetic and bio markers are shared with some other recognised tumor types, including:
      • high-grade gliomas,
      • ependymomas and
      • atypical teratoid/rhabdoid tumors (AT/RTs). ‘
  • MOST of the remaining PNETs can be classified into one of four probable sub-types.
  • The sub-types have been identified and are being verified.
  • A very small percentage will remain unclassified because they cannot be grouped into a cluster of similar markers.

Next steps

Once the research has been verified through repeat studies and a greater number of tumours, doctors can take the next step of designing protocols for clinical trials for the treatment of the various PNET sub-types.

Four New sub-types identified

  • CNS neuroblastoma with FOXR2 activation
    • (CNS NB-FOXR2)
  • CNS Ewing sarcoma family tumor with CIC alteration
    • (CNS EFT-CIC)
  • CNS high-grade neuroepithelial tumor with MN1 alteration
    • (CNS HGNET-MN1)
  • CNS high-grade neuroepithelial tumor with BCOR alteration

Establishment of a new Embryonal Tumour Group – ETMR 

Sufficient research has been done to be able to definitively recognise a new embryonal tumour group called Embryonal Tumour with Multi-Layered Rosettes. This diagnosis will pick up some PNETs with a particular marking, called the ‘amplification of the C19MC region on chromosome 19’.

St Jude's and German Cancer Institute Study
Article published in 'Sturm Cell 2016' summarising the findings of the Study
Click here to access the article