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Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

Author

Listed:
  • Isabelle Janoueix-Lerosey

    (Institut Curie, Centre de Recherche,
    Inserm, U830, 26 rue d’Ulm, Paris F-75248, France)

  • Delphine Lequin

    (Institut Curie, Centre de Recherche,
    Inserm, U830, 26 rue d’Ulm, Paris F-75248, France)

  • Laurence Brugières

    (Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Villejuif, France)

  • Agnès Ribeiro

    (Institut Curie, Unité de Génétique Somatique)

  • Loïc de Pontual

    (Université Paris Descartes, Faculté de Médecine et INSERM-U781, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France)

  • Valérie Combaret

    (Centre Léon Bérard, FNCLCC, Laboratoire de Recherche Translationnelle)

  • Virginie Raynal

    (Institut Curie, Centre de Recherche,
    Inserm, U830, 26 rue d’Ulm, Paris F-75248, France)

  • Alain Puisieux

    (Centre Léon Bérard, FNCLCC, Laboratoire de Recherche Translationnelle
    Inserm, U590,
    Université de Lyon, Lyon1, Institut des Sciences Pharmaceutiques et Biologiques, Lyon F-69008, France)

  • Gudrun Schleiermacher

    (Institut Curie, Centre de Recherche,
    Inserm, U830, 26 rue d’Ulm, Paris F-75248, France
    Institut Curie)

  • Gaëlle Pierron

    (Institut Curie, Unité de Génétique Somatique)

  • Dominique Valteau-Couanet

    (Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Villejuif, France)

  • Thierry Frebourg

    (Service de Génétique, CHU de Rouen et Inserm U614, Faculté de Médecine et de Pharmacie)

  • Jean Michon

    (Institut Curie)

  • Stanislas Lyonnet

    (Université Paris Descartes, Faculté de Médecine et INSERM-U781, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France)

  • Jeanne Amiel

    (Université Paris Descartes, Faculté de Médecine et INSERM-U781, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France)

  • Olivier Delattre

    (Institut Curie, Centre de Recherche,
    Inserm, U830, 26 rue d’Ulm, Paris F-75248, France
    Institut Curie, Unité de Génétique Somatique)

Abstract

Neuroblastoma: a genetic link to ALK Neuroblastoma is the most common childhood cancer. There is a strong familial association and it was predicted over 30 years ago that there was a genetic element to the disease. Four groups now report the identification of mutations in the tyrosine kinase receptor ALK (anaplastic lymphoma kinase) in neuroblastoma patients. ALK acts as a neuroblastoma predisposition gene, and somatic point mutations occur in sporadic neuroblastoma cases. These mutations promote ALK's kinase activity and can transform cells and display tumorigenic activity in vivo. ALK inhibitors decrease neuroblastoma cell proliferation, so have potential as anticancer drugs.

Suggested Citation

  • Isabelle Janoueix-Lerosey & Delphine Lequin & Laurence Brugières & Agnès Ribeiro & Loïc de Pontual & Valérie Combaret & Virginie Raynal & Alain Puisieux & Gudrun Schleiermacher & Gaëlle Pierron & Domi, 2008. "Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma," Nature, Nature, vol. 455(7215), pages 967-970, October.
    • Handle: RePEc:nat:nature:v:455:y:2008:i:7215:d:10.1038_nature07398
    DOI: 10.1038/nature07398
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    Cited by:

    1. Tas ML & Van Noesel MM & Van den Boogaard ML & Schild GG & Hehir-Kwa JY & Molenaar JJ & Van Noesel MM & Van de Sande MAJ & Van de Sande MAJ & Bovée JVMG & Flucke UE & Flucke UE & Koster J, 2020. "ZFP42: A New Tumor Predisposition Gene? Presentation of a Patient with two Neoplasms in Childhood," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 27(5), pages 21166-21172, May.
    2. Esther R. Berko & Gabriela M. Witek & Smita Matkar & Zaritza O. Petrova & Megan A. Wu & Courtney M. Smith & Alex Daniels & Joshua Kalna & Annie Kennedy & Ivan Gostuski & Colleen Casey & Kateryna Kryts, 2023. "Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    3. Bieke Decaesteker & Amber Louwagie & Siebe Loontiens & Fanny De Vloed & Sarah-Lee Bekaert & Juliette Roels & Suzanne Vanhauwaert & Sara De Brouwer & Ellen Sanders & Alla Berezovskaya & Geertrui Deneck, 2023. "SOX11 regulates SWI/SNF complex components as member of the adrenergic neuroblastoma core regulatory circuitry," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    4. Karin Schmelz & Joern Toedling & Matt Huska & Maja C. Cwikla & Louisa-Marie Kruetzfeldt & Jutta Proba & Peter F. Ambros & Inge M. Ambros & Sengül Boral & Marco Lodrini & Celine Y. Chen & Martin Burker, 2021. "Spatial and temporal intratumour heterogeneity has potential consequences for single biopsy-based neuroblastoma treatment decisions," Nature Communications, Nature, vol. 12(1), pages 1-13, December.
    5. Cécile Thirant & Agathe Peltier & Simon Durand & Amira Kramdi & Caroline Louis-Brennetot & Cécile Pierre-Eugène & Margot Gautier & Ana Costa & Amandine Grelier & Sakina Zaïdi & Nadège Gruel & Irène Ji, 2023. "Reversible transitions between noradrenergic and mesenchymal tumor identities define cell plasticity in neuroblastoma," Nature Communications, Nature, vol. 14(1), pages 1-18, December.

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