JAK2 p.G571S in B-cell precursor acute lymphoblastic leukemia: a synergizing germline susceptibility
Language English Country England, Great Britain Media print-electronic
Document type Letter
Grant support
70112951
Deutsche Kinderkrebsstiftung (German Childhood Cancer Foundation) - International
DJCLS 02R/2016
José Carreras Leukämie-Stiftung (Deutsche José Carreras Leukämie-Stiftung) - International
AU 525/1-1
Deutsche Forschungsgemeinschaft (German Research Foundation) - International
PubMed
30967616
PubMed Central
PMC6756027
DOI
10.1038/s41375-019-0459-z
PII: 10.1038/s41375-019-0459-z
Knihovny.cz E-resources
- MeSH
- B-Lymphocytes metabolism MeSH
- Child MeSH
- Genetic Predisposition to Disease genetics MeSH
- Janus Kinase 2 genetics MeSH
- Polymorphism, Single Nucleotide genetics immunology MeSH
- Humans MeSH
- Precursor B-Cell Lymphoblastic Leukemia-Lymphoma genetics MeSH
- Signal Transduction genetics MeSH
- Germ Cells metabolism MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Letter MeSH
- Names of Substances
- JAK2 protein, human MeSH Browser
- Janus Kinase 2 MeSH
Childrens Cancer Research Institute St Anna Childrens Hospital Vienna Austria
Department of Neurology Sheba Medical Center Tel Hashomer Israel
John von Neumann Institute for Computing Forschungszentrum Jülich GmbH 52425 Jülich Germany
National Center for Tumor Diseases Dresden Germany
Pediatric Hematology Oncology Childhood Leukemia Investigation Prague Prague Czech Republic
Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
The Joseph Sagol Neuroscience Center Sheba Medical Center Tel Hashomer Israel
See more in PubMed
Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373:2336–46. doi: 10.1056/NEJMoa1508054. PubMed DOI PMC
Mullighan CG. Molecular genetics of B-precursor acute lymphoblastic leukemia. J Clin Invest. 2012;122:3407–15. doi: 10.1172/JCI61203. PubMed DOI PMC
Holmfeldt L, Wei L, Diaz-Flores E, Walsh M, Zhang J, Ding L, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013;45:242–52. doi: 10.1038/ng.2532. PubMed DOI PMC
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, et al. Germline genetic IKZF1 variation and predisposition to childhood acute lymphoblastic leukemia. Cancer Cell. 2018. PubMed PMC
Brozou T, Taeubner J, Velleuer E, Dugas M, Wieczorek D, Borkhardt A, et al. Genetic predisposition in children with cancer—affected families’ acceptance of Trio-WES. Eur J Pediatr. 2018;177:53–60. doi: 10.1007/s00431-017-2997-6. PubMed DOI PMC
Kuhlen M, Borkhardt A. Trio sequencing in pediatric cancer and clinical implications. EMBO Mol Med. 2018. PubMed PMC
Stanulla M, Dagdan E, Zaliova M, Moricke A, Palmi C, Cazzaniga G, et al. IKZF1(plus) defines a new minimal residual disease-dependent very-poor prognostic profile in pediatric b-cell precursor acute lymphoblastic leukemia. J Clin Oncol. 2018;36:1240–9. doi: 10.1200/JCO.2017.74.3617. PubMed DOI
Nan J, Hu H, Sun Y, Zhu L, Wang Y, Zhong Z, et al. TNFR2 stimulation promotes mitochondrial fusion via Stat3- and NF-kB-dependent activation of OPA1 expression. Circ Res. 2017;121:392–410. doi: 10.1161/CIRCRESAHA.117.311143. PubMed DOI PMC
Shochat C, Tal N, Bandapalli OR, Palmi C, Ganmore I, te Kronnie G, et al. Gain-of-function mutations in interleukin-7 receptor-alpha (IL7R) in childhood acute lymphoblastic leukemias. J Exp Med. 2011;208:901–8. doi: 10.1084/jem.20110580. PubMed DOI PMC
Shojaee S, Chan LN, Buchner M, Cazzaniga V, Cosgun KN, Geng H, et al. PTEN opposes negative selection and enables oncogenic transformation of pre-B cells. Nat Med. 2016;22:379–87. doi: 10.1038/nm.4062. PubMed DOI PMC
James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144–8. doi: 10.1038/nature03546. PubMed DOI
Roberts KG, Li Y, Payne-Turner D, Harvey RC, Yang YL, Pei D, et al. Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med. 2014;371:1005–15. doi: 10.1056/NEJMoa1403088. PubMed DOI PMC
Schwartzman Omer, Savino Angela Maria, Gombert Michael, Palmi Chiara, Cario Gunnar, Schrappe Martin, Eckert Cornelia, von Stackelberg Arend, Huang Jin-Yan, Hameiri-Grossman Michal, Avigad Smadar, te Kronnie Geertruy, Geron Ifat, Birger Yehudit, Rein Avigail, Zarfati Giulia, Fischer Ute, Mukamel Zohar, Stanulla Martin, Biondi Andrea, Cazzaniga Giovanni, Vetere Amedeo, Wagner Bridget K., Chen Zhu, Chen Sai-Juan, Tanay Amos, Borkhardt Arndt, Izraeli Shai. Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome. Proceedings of the National Academy of Sciences. 2017;114(20):E4030–E4039. doi: 10.1073/pnas.1702489114. PubMed DOI PMC
Bercovich D, Ganmore I, Scott LM, Wainreb G, Birger Y, Elimelech A, et al. Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down’s syndrome. Lancet. 2008;372:1484–92. doi: 10.1016/S0140-6736(08)61341-0. PubMed DOI
Izraeli S. The acute lymphoblastic leukemia of Down syndrome—genetics and pathogenesis. Eur J Med Genet. 2016;59:158–61. doi: 10.1016/j.ejmg.2015.11.010. PubMed DOI