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Pediatric Hematology and Oncology Volume 41, 2024 - Issue 1
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Brief Report

Rare TCF3 variants associated with pediatric B cell acute lymphoblastic leukemia

Satoshi Miyamotoa Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, JapanView further author information
,
Kevin Y. Urayamab Graduate School of Public Health, St. Luke’s International University, Tokyo, JapanView further author information
,
Yuki Arakawac Department of Hematology/Oncology, Saitama Children’s Medical Center, Saitama, JapanView further author information
,
Katsuyoshi Kohc Department of Hematology/Oncology, Saitama Children’s Medical Center, Saitama, JapanView further author information
,
Yuki Yuzad Department of Hematology/Oncology, Tokyo Metropolitan Children’s Medical Center, Tokyo, JapanView further author information
,
Daisuke Hasegawae Department of Pediatrics, St. Luke’s International Hospital, Tokyo, JapanView further author information
,
Yuichi Taneyamaf Department of Hematology/Oncology, Chiba Children’s Hospital, Chiba, JapanView further author information
,
Yasushi Noguchig Department of Pediatrics, Japanese Red Cross Narita Hospital, Chiba, JapanView further author information
,
Masakatsu Yanagimachih Department of Pediatrics, Yokohama City University Hospital, Kanagawa, Japan;i Division of Hematology/Oncology, Kanagawa Children’s Medical Center, Yokohama, JapanView further author information
,
Takeshi Inukaij Department of Pediatrics, University of Yamanashi, Yamanashi, JapanORCID Iconhttps://orcid.org/0000-0002-4783-2184View further author information
ORCID Icon,
Setsuo Otak Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba, JapanView further author information
,
Hiroyuki Takahashil Department of Pediatrics, Toho University, Tokyo, JapanView further author information
,
Dai Keinoi Division of Hematology/Oncology, Kanagawa Children’s Medical Center, Yokohama, Japan;m Department of Pediatrics, St. Marianna University, Kanagawa, JapanView further author information
,
Daisuke Toyaman Division of Pediatrics, Showa University Fujigaoka Hospital, Yokohama, Japan;o Department of Pediatrics, Tokai University, Kanagawa, JapanView further author information
,
Junko Takitap Department of Pediatrics, The University of Tokyo, Tokyo, Japan;q Department of Pediatrics, Kyoto University, Kyoto, JapanView further author information
,
Daisuke Tomizawaa Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan;r Children’s Cancer Center, National Center for Child Health and Development, Tokyo, JapanView further author information
,
Tomohiro Morioa Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, JapanView further author information
,
Kazutoshi Koikes Division of Pediatric Hematology and Oncology, Ibaraki Children’s Hospital, Mito, JapanView further author information
,
Koichi Moriwakit Department of Pediatrics, Saitama Medical Center, Saitama Medical University, Saitama, JapanView further author information
,
Yuya Satou Department of Pediatrics, Dokkyo Medical University, Tochigi, JapanView further author information
,
Junya Fujimurav Department of Pediatrics and Adolescent Medicine, Juntendo University, School of Medicine, Tokyo, JapanView further author information
,
Daisuke Moritaw Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, JapanView further author information
,
Yujin Sekinakax Department of Pediatrics, National Defense Medical College, Saitama, JapanORCID Iconhttps://orcid.org/0000-0002-2497-3419View further author information
ORCID Icon,
Kozue Nakamuray Department of Pediatrics, Teikyo University Hospital, Tokyo, JapanView further author information
,
Kazuo Sakashitaz Department of Hematology/Oncology, Nagano Children’s Hospital, Nagano, JapanView further author information
,
Hiroaki Gotoi Division of Hematology/Oncology, Kanagawa Children’s Medical Center, Yokohama, JapanView further author information
,
Atsushi Manabee Department of Pediatrics, St. Luke’s International Hospital, Tokyo, Japan;aa Department of Pediatrics, Hokkaido University, Hokkaido, JapanView further author information
&
Masatoshi Takagia Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, JapanCorrespondence[email protected]
View further author information
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Pages 81-87 | Received 26 Jan 2023, Accepted 28 Mar 2023, Published online: 02 May 2023

References

  • Buitenkamp TD, Izraeli S, Zimmermann M, et al. Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group. Blood. 2014;123(1):70–77. doi:10.1182/blood-2013-06-509463.
  • Takagi M. DNA damage response and hematological malignancy. Int J Hematol. 2017;106(3):345–356. doi:10.1007/s12185-017-2226-0.
  • Escudero A, Takagi M, Auer F, et al. Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. Leukemia. 2022;36(9):2338–2342. doi:10.1038/s41375-022-01661-7.
  • Gocho Y, Yang JJ. Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia. Blood. 2019;134(10):793–797. doi:10.1182/blood.2018852400.
  • Papaemmanuil E, Hosking FJ, Vijayakrishnan J, et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1006–1010. doi:10.1038/ng.430.
  • Urayama KY, Takagi M, Kawaguchi T, et al. Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese. Sci Rep. 2018;8(1):789. doi:10.1038/s41598-017-19127-7.
  • Iacobucci I, Mullighan CG. Genetic Basis of Acute Lymphoblastic Leukemia. J Clin Oncol. 2017;35(9):975–983. doi:10.1200/JCO.2016.70.7836.
  • Bain G, Robanus Maandag EC, Te Riele HP, et al. Both E12 and E47 allow commitment to the B cell lineage. Immunity. 1997;6(2):145–154. doi:10.1016/s1074-7613(00)80421-5.
  • Ben-Ali M, Yang J, Chan KW, et al. Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia. J Allergy Clin Immunol. 2017;140(4):1191–1194 e1194. doi:10.1016/j.jaci.2017.04.037.
  • Boisson B, Wang YD, Bosompem A, et al. A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. J Clin Invest. 2013;123(11):4781–4785. doi:10.1172/JCI71927.
  • Shah S, Schrader KA, Waanders E, et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013;45(10):1226–1231. doi:10.1038/ng.2754.
  • Churchman ML, Qian M, Te Kronnie G, et al. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018;33(5):937–948 e938. doi:10.1016/j.ccell.2018.03.021.
  • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–1760. doi:10.1093/bioinformatics/btp324.
  • Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25(16):2078–2079. doi:10.1093/bioinformatics/btp352.
  • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164. doi:10.1093/nar/gkq603.
  • Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47(D1):D886–D894. doi:10.1093/nar/gky1016.
  • Kanda Y. Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics. Bone Marrow Transplant. 2013;48(3):452–458. doi:10.1038/bmt.2012.244.
  • Hoshino A, Okada S, Yoshida K, et al. Abnormal hematopoiesis and autoimmunity in ­human subjects with germline IKZF1 mutations. J Allergy Clin Immunol. 2017;140(1):223–231. doi:10.1016/j.jaci.2016.09.029.
  • Cozen W, Timofeeva MN, Li D, et al. A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus. Nat Commun. 2014;5:3856. doi:10.1038/ncomms4856.
  • Escherich CS, Chen W, Miyamoto S, et al. Identification of TCF3 germline variants in pediatric B-cell acute lymphoblastic leukemia. Blood Adv. 2022;140(Supplement 1):990–991. doi:10.1182/bloodadvances.2022008563.
  • Kim J, Karyadi DM, Hartley SW, et al. Inflated expectations: Rare-variant association analysis using public controls. PLoS One. 2023;18(1):e0280951. doi:10.1371/journal.pone.0280951.

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