Biology Committee

Written By 3B Digital

Composition:

Chair: Gudrun Schleiermacher (France) gudrun.schleiermacher@curie.fr
Co-chair: Sabine Taschner-Mandl (Austria) sabine.taschner@ccri.at

Members:

  • Jackie Challis (Australia)

  • Michael Sullivan (Australia)

  • Howard Slater (Australia)

  • Sabine Taschner-Mandl (Austria)

  • Peter Ambros (Austria)

  • Inge Ambros (Austria)

  • Stefan Fiedler (Austria)

  • Marion Zavadil (Austria)

  • Marie Bernkopf (Austria)

  • Fikret Rifatbegovic (Austria)

  • Nadine Vanroy (Belgium)

  • Franki Speleman (Belgium)

  • Katleen De Preter (Belgium)

  • Joke Vandesompele (Belgium)

  • Ales Vicha (Czech Republic)

  • Maria Rossing (Denmark)

  • Olga Oestrup (Denmark)

  • Anne Juvonen (Finland)

  • Tarja Salonen (Finland)

  • Veli Kairisto (Finland)

  • Nathalie Auger (France)

  • Valerie Combaret (France)

  • Alexander Valent (France)

  • Isabelle Janoueix (France)

  • Olivier Delattre (France)

  • Gaelle Pierron (France)

  • Eve Lapouble (France)

  • Angelika Eggert (Germany)

  • Frank Westermann (Germany)

  • Matthias Fischer (Germany)

  • Thorsten Simon (Germany)

  • Karin Schmelz (Germany)

  • Johannes Schulte (Germany)

  • Falk Hertwig (Germany)

  • Christian Beltinger (Germany)

  • Steffen Fuchs (Germany)

  • Hedwig Deubzer (Germany)

  • Godfrey Chi-fung Chan (Hong Kong)

  • Koon Wing Chan (Hong Kong)

  • David Betts (Ireland)

  • Marta Jeison (Israel)

  • Yehudit Birger (Israel)

  • Michal Hameiri-Grossman (Israel)

  • Katia Mazzocco (Italy)

  • Raffaella Defferrari (Italy)

  • Vaidas Dirse (Italy)

  • Mirco Ponzoni (Italy)

  • Martina Morini (Italy)

  • Mario Capasso (Italy)

  • Castriconi Roberta (Italy)

  • Tytgat Lieve (Netherlands)

  • Jan Molenaar (Netherlands)

  • Jan Koster (Netherlands)

  • Michael Sullivan (New Zealand)

  • Sarah Hunter (New Zealand)

  • Klaus Beiske (Norway)

  • Katarzyna Szewczyk (Poland)

  • Barbara Marques (Portugal)

  • Sanja Aveic (Serbia)

  • Jaime Fontdemora (Spain)

  • Amparo López-Carrasco (Spain)

  • Rosa Noguera (Spain)

  • Tommy Martinsson (Sweden)

  • Jacqueline Schoumans (Switzerland)

  • Annick Muhlethaler (Switzerland)

  • Angharad Humphreys (UK)

  • Nick Bown (UK)

  • Deborah Tweddle (UK)

  • Sally George (UK)

  • Louis Chesler (UK)

Aims

  • to ensure state of the art diagnosis of clinically decision making molecular biological markers in patients with neuroblastoma

  • to foster clinical and translational research based on the characterization of biomarkers in patients with neuroblastoma

  • to contribute to fundamental research on the biology to understand the origin and development of peripheral neuroblastic tumors

Biology committee working groups:

 SIOPEN reference laboratories

  • members involved actively in the review process of biology data (as established for LINES)

    • members involved in the ‘future” review process for HR NBL2/ ALK molecular diagnosis

    • SIOPEN tumor biology/translational research

  • (with close links to the activities involving  liquid biopsies/cfDNA studies; see below)

Meetings/TCC held during past 3 years

  • Joint SIOPEN Biology and Liquid Biopsy meeting (online):  17 – 18 January 2022 (Coordination : Lieve Tytgat, Sabine Taschner-Mandl, Gudrun Schleiermacher)

  •  SIOPEN Translational Research Meeting : 16 – 18 January 2023 in Paris, France (coordination : Gudrun Schleiermacher)

  • SIOPEN Translational Research Meeting : 30 January – 1 february 2024 in Vienna, Austria (coordination : Sabine Taschner-Mandl)

    • strong contribution to working group meetings for development of the SIOPEN Bioportal, ALK molecular diagnosis in HR NBL2, Translational Steering Committee

    • strong contribution to the planning of the future ANR 2025 meeting in May 2025

  • (ANR president 2018 - 2023: Gudrun Schleiermacher)

Key achievements in year (including publications)

  • SIOPEN Biology reference laboratories : molecular diagnosis in NB and central review (LINES, HRNBL2)

  • HR NBL2 lab manual; Beacon2 lab manual

  • towards application of SOPs for molecular diagnosis of ALK molecular alterations in NB

  • Defining the eCRFs for Bioportal and HR-NBL2

  • Contributions to SIOPEN Strategy

  • Major Publications involving several members/laboratories of the SIOPEN Biology committee

Specific deliverable objective(s) for next 1 year 

  • Molecular diagnosis:

    • Finalisation of the standardisation of ALK molecular diagnosis in all SIOPEN Biology reference laboratories; Round robin quality control  and publication of results – establishment of the necessary framework (MTAs) and sending of a set of 14 different genomic DNAs to 21 SIOPEN biology reference laboratories ; manuscript in preparation 

  • Biology Cohort Studies

    • SIOPEN HR NGS panel study -  frequency and prognostic impact of mutations in targetable genes in patients enrolled in HR-NBL1 ( A Bellini, G Schleiermacher)

    • SIOPEN HR copy number study - frequency and prognostic impact of somatic copy number alterations in patients enrolled in HR-NBL1 (S Taschner-Mandl)

    • Collaboration with COG (Dr Meredith Irwin) : harmonization of interpretation of genomic analyses (copy number, mutation calling) in NB

Objectives for the next 5 years

  • SIOPEN Biology reference laboratories: molecular diagnosis in NB

    • MYCN in all neuroblastic tumors

    • Copy number profile (aCGH or SNParray or lcWGS) when clinically decision making according to our protocols - LINES, HR-NBL2 (12-18 months, no MNA), including central review, within 6 weeks

    • Mutational/amplification  status of ALK

  •  other analyses: according to different national organizations

  • Contribution to molecular characterization/precision medicine programs (MAPPYACTS -> France Medecine Génomique; INFORM2, etc)

Ongoing and planned retrospective collaborative Biology cohort studies

LINES:

  • L2 >18m, no MNA (G8)

  •  extended biological analysis (D Tweddle); including a transatlantic collaboration

    • extended biological analyses for patients with relapse in the other LINES cohorts

HR-NBL1

  • SIOPEN HR patients  12-18 months (S Fiedler)

  • SIOPEN HR NGS panel study

  • Combined genomic and MRD-markers

  • SIOPEN HR copy number study (S. Taschner-Mandl)

Translational and fundamental research questions

  • ALT/ ATRX/ TERT: telomere maintenance

  • Spatial and temporal heterogeneity, including studies of tumor samples and sequential liquid biopsies (in collaboration with the cfDNA committee)

  • Cell plasticity and cellular identity

  • Microenvironment

  • Pharmacogenetics

Development of closer interactions between the SIOPEN (tumor) biology and other committees (molecular monitoring group, cfDNA committee, immunology, new drugs, pathology, bone marrow,…)

Specific structuration of the “liquid biopsy” activities to develop new tools and address new questions (within the newly established cfDNA and umbrella circulating biomarker committee);

Contribution to the overarching Translational Steering Committee

Financial needs to achieve objectives

  • The funding of the SIOPEN Bioportal manager is an important step for the structuring of our activities

 Further financial needs:

  • Support for sample and data management (both at a local and national level)

  • Support for specific biological studies and data analyses;

  • Data storage enabling further collaborative studies (R2 environment)

Any other comments/challenges

The different SIOPEN biology laboratories are actively involved in various collaborative research projects and networks, some of which have access to international funding

  • Collaborations with the IMI2- ITCC P4 program (PI Stefan Pfister, Heidelberg)

  • Liquidhope (Transcan-2 funding; PI H Deubzer, Berlin)

  • COMPASS (EraPedMed funding, PI O Witt, Heidelberg)

 A major challenge remains the possibility of integrative analysis of data from different projects /different analytical pipelines

Interested in joining the Specialty committee?

Please first register to become a SIOPEN member and then contact the specialty committee chair and/or co-chair in order to join the committee.

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