Activities and Projects

• ‘Origin’: I-BFM ALL Host Genetic Variation Working Group (coordinated by Christian Peter Kratz, Martin Stanulla, Hélène Cavé)
• COST-Legend (2018-2022): The European Union-funded COST Action (LEukaemia GENe Discovery by data sharing, mining, and collaboration – LEGEND) was an international and multidisciplinary collaboration between clinicians and researchers that covered a range of aspects of genetic predisposition in childhood leukemia.
• Two editions (2019, 2021) of the ‘Predisposition to hereditary Leukemia and Lymphoma Training School” (COST-Action)
• Introduction of easy tools to recognize leukemia predisposition in different clinical protocol: by several members
• Coordination with the SIOPE-Host Genome group

Collaborative projects:

• ELEGANT Study (Exploring Leukemia: Education, Genetics, And Novel Technologies): K.Schmiegelow (DK)
• Cohesin genes variants in ALL: G.Cazzaniga (IT), J.Hauer (DE)
• Lymphoid malignancies in children with AT: Sarah Elitzur (IL)
• Mutational patterns in tumors of children with NBS and AT: Dilys Weijers (NL)
• Mono- and digenic germline predisposition in BCP-ALL: F.Auer, J.Hauer, A.Borkhardt (DE) and others
• Family-based analysis of germline variants of children with leukemia/lymphoma”: several members

Selected publications

Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey. Lazic J, Haas OA, Özbek U, Ripperger T, Byrjalsen A, Te Kronnie G; LEGEND-COST Working group 5 members. Pediatr Blood Cancer. 2023 May;70(5):e30229. doi: 10.1002/pbc.30229. Epub 2023 Mar 1. PMID: 36860090.

European standard clinical practice – Key issues for the medical care of individuals with familial leukemia. Förster A, Davenport C, Duployez N, Erlacher M, Ferster A, Fitzgibbon J, Göhring G, Hasle H, Jongmans MC, Kolenova A, Kronnie G, Lammens T, Mecucci C, Mlynarski W, Niemeyer CM, Sole F, Szczepanski T, Waanders E, Biondi A, Wlodarski M, Schlegelberger B, Ripperger T. Eur J Med Genet. 2023 Apr;66(4):104727. doi: 10.1016/j.ejmg.2023.104727. Epub 2023 Feb 10. PMID: 36775010.

Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia. Wagener R, Elitzur S, Brozou T, Borkhardt A. Eur J Med Genet. 2023 Apr;66(4):104725. doi: 10.1016/j.ejmg.2023.104725. Epub 2023 Feb 9. PMID: 36764385.

Clinical and laboratory diversity of diffuse large B-cell lymphomas in children with Nijmegen breakage syndrome. Pastorczak A, Szmyd B, Braun M, Madzio J, Wypyszczak K, Sztromwasser P, Fendler W, Wojtaszewska M, Chrzanowski J, Grajkowska W, Gregorek H, Wakulinska A, Kazanowska B, Krenova Z, Weijers DD, Kuiper RP, Mlynarski W. Haematologica. 2023 Apr 6. doi: 10.3324/haematol.2022.282325. Epub ahead of print. PMID: 37021541.

Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. Escudero A, Takagi M, Auer F, Friedrich UA, Miyamoto S, Ogawa A, Imai K, Pascual B, Vela M, Stepensky P, Yasin L, Elitzur S, Borkhardt A, Pérez-Martínez A, Hauer J. Leukemia. 2022 Sep;36(9):2338-2342. doi: 10.1038/s41375-022-01661-7. Epub 2022 Jul 28. PMID: 35902733.

Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies. Saitta C, Rebellato S, Bettini LR, Giudici G, Panini N, Erba E, Massa V, Auer F, Friedrich U, Hauer J, Biondi A, Fazio G, Cazzaniga G. Blood Cancer J. 2022 Jun 2;12(6):88. doi: 10.1038/s41408-022-00683-9. PMID: 35654786

Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma. Schedel A, Friedrich UA, Morcos MNF, Wagener R, Mehtonen J, Watrin T, Saitta C, Brozou T, Michler P, Walter C, Försti A, Baksi A, Menzel M, Horak P, Paramasivam N, Fazio G, Autry RJ, Fröhling S, Suttorp M, Gertzen C, Gohlke H, Bhatia S, Wadt K, Schmiegelow K, Dugas M, Richter D, Glimm H, Heinäniemi M, Jessberger R, Cazzaniga G, Borkhardt A, Hauer J, Auer F. Int J Mol Sci. 2022 May 5;23(9):5174. doi: 10.3390/ijms23095174. PMID: 35563565

Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort. Kroeze E, Weijers DD, Hagleitner MM, de Groot-Kruseman HA, Jongmans MCJ, Kuiper RP, Pieters R, Meijerink JPP, Loeffen JLC. High Prevalence of Hemasphere. 2021 Dec 21;6(1):e668. doi: 10.1097/HS9.0000000000000668. PMID: 34964038

JAK2 p.G571S in B-cell precursor acute lymphoblastic leukemia: a synergizing germline susceptibility. Lin M, Nebral K, Gertzen CGW, Ganmore I, Haas OA, Bhatia S, Fischer U, Kuhlen M, Gohlke H, Izraeli S, Trka J, Hu J, Borkhardt A, Hauer J, Auer F. Leukemia. 2019 Sep;33(9):2331-2335. doi: 10.1038/s41375-019-0459-z. Epub 2019 Apr 9. PMID: 30967616

Special issue of Eur J Med Genet (March 2016) introduced by the summary article:

Genetic predisposition to acute lymphoblastic leukemia: Overview on behalf of the I-BFM ALL Host Genetic Variation Working Group. Kratz CP, Stanulla M, Cavé H. Eur J Med Genet. 2016 Mar;59(3):111-5. doi: 10.1016/j.ejmg.2015.10.003. Epub 2015 Dec 15.

Committee members

Andishe Attarbaschi, Tim Lammens, Jan Trka, Jan Zuna, Kjeld Schmiegelow, Helene Cavé, Franziska Auer, Ute Fischer, Julia Hauer, Tim Ripperger, Sarah Elitzur, Shai Izraeli, Laura Bettini, Grazia Fazio, Luca Lo Nigro, Masatoshi Takagi, Marjolijn Jongmans, Roland Kuiper, Jan Loeffen, Esmé Waanders, Agata Pastorczak, Jelena Lazic, Adela Escudero, Ugur Ozbek, Martin Stanulla, Arndt Borkhardt and many other regular and irregular participants.