gms | German Medical Science

70. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)
Joint Meeting mit der Skandinavischen Gesellschaft für Neurochirurgie

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

12.05. - 15.05.2019, Würzburg

Brainstem biopsy in paediatric diffuse intrinsic pontine glioma in the era of precision medicine – the INFORM study experience

Hirnstamm-Biopsie bei pädiatrischem diffusem Ponsgliom im Rahmen der Präzisionsmedizin – die INFORM-Erfahrung

Meeting Abstract

  • presenting/speaker Ahmed El Damaty - Universitätsklinikum Heidelberg, Neurochirurgische Klinik, Heidelberg, Deutschland
  • Elke Pfaff - Universitätsklinikum Heidelberg, Pädiatrische Onkologie, Heidelberg, Deutschland
  • Karl Kiening - Universitätsklinikum Heidelberg, Neurochirurgische Klinik, Heidelberg, Deutschland
  • Andreas W. Unterberg - Universitätsklinikum Heidelberg, Neurochirurgische Klinik, Heidelberg, Deutschland
  • Olaf Witt - Universitätsklinikum Heidelberg, Pädiatrische Onkologie, Heidelberg, Deutschland
  • Heidi Bächli - Universitätsklinikum Heidelberg, Neurochirurgische Klinik, Heidelberg, Deutschland

Deutsche Gesellschaft für Neurochirurgie. 70. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Skandinavischen Gesellschaft für Neurochirurgie. Würzburg, 12.-15.05.2019. Düsseldorf: German Medical Science GMS Publishing House; 2019. DocV314

doi: 10.3205/19dgnc332, urn:nbn:de:0183-19dgnc3321

Veröffentlicht: 8. Mai 2019

© 2019 El Damaty et al.
Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). Lizenz-Angaben siehe http://creativecommons.org/licenses/by/4.0/.


Gliederung

Text

Objective: Diffuse intrinsic pontine glioma (DIPG) is a highly aggressive pediatric brain tumor with fatal outcome. The INFORM registry offers comprehensive molecular profiling of high-risk tumors in order to identify target alterations for potential precision therapy. We analyzed molecular characteristics and clinical information after brainstem biopsy of all enrolled newly diagnosed DIPGs for risk-benefit assessment.

Methods: From 02/2015–02/2018, 21 subsequent primary DIPG cases were enrolled in the nation-wide multi-center INFORM registry study following brainstem biopsy. Whole-genome, whole-exome sequencing and DNA methylation analysis were performed, and RNA-sequencing was added in case of sufficient material. Standardized questionnaires and the INFORM electronic case report form retrieved clinical data.

Results: Tumor material obtained from brainstem biopsy was sufficient for DNA analysis in all cases and RNA analysis in 16/21 cases. In 16/21 cases (76%) potential targetable alterations were identified including an EZH2 alteration not previously described in DIPG. In 5/21 cases molecular information was used for initiation of targeted treatment. The majority of patients (19/21) presented with neurological deficits at diagnosis. Newly arising or worsening of neurological deficits post-biopsy occurred in nine patients. Symptoms were reversible or improved notably in eight cases.

Conclusion: In this multi-center study setting, brainstem biopsy of DIPG was feasible and yielded sufficient material for comprehensive molecular profiling. Relevant molecular targets were identified impacting clinical management in a substantial subset. Death or severe bleeding occurred in none of the cases. 1/20 patients experienced unilateral paresthesia possibly related to biopsy.