Abstract
Here we report on a child with Li-Fraumeni syndrome with a de novo TP53 mutation c.818G>A, who developed three malignancies at the age of 4 months, 4 and 5 years, respectively. We show that (i) in the choroid plexus carcinoma, the germline mutation was detected in a homozygous state due to copy-neutral LOH/uniparental disomy, (ii) in the secondary AML, a complex karyotype led to loss of the wild-type TP53 allele, (iii) in the Wilms tumor, the somatic mutation c.814G>A led to compound heterozygosity. The findings show that the complete inactivation of TP53 by different mechanisms is an important step towards tumorigenesis.
References
May 14, 1992·The New England Journal of Medicine·D MalkinJ Garber
Jul 2, 1992·Nature·D P Lane
Dec 10, 1990·Science·D MalkinM A Tainsky
Dec 20, 1990·Nature·S SrivastavaE H Chang
Oct 1, 1969·Annals of Internal Medicine·F P Li, J F Fraumeni
Apr 4, 2003·Lancet·Fiona LallooUNKNOWN Early Onset Breast Cancer Study Group
May 31, 2008·Journal of Medical Genetics·G BougeardUNKNOWN French LFS working group
Aug 5, 2009·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Julie TinatThierry Frébourg
Jun 5, 2010·Journal of Medical Genetics·Marielle W G RuijsLaura J van 't Veer
Nov 26, 2010·Clinical Pediatrics·Abby M AllenRaymond G Watts
Mar 30, 2011·Nature Chemical Biology·Jie XuJoost Schymkowitz
Jan 24, 2012·Cell·Tobias RauschJan O Korbel
Aug 11, 2012·Journal of the National Comprehensive Cancer Network : JNCCN·Eve HenryMelinda L Telli
Nov 23, 2012·Human Mutation·Yasmine ZerdoumiJean-Michel Flaman
Jan 10, 2013·British Journal of Haematology·Austin G KulasekararajGhulam J Mufti
Mar 22, 2014·Cancer Cell·Patricia A J Muller, Karen H Vousden
Citations
Jan 7, 2016·Frontiers in Oncology·Dawid WalerychGiannino Del Sal
Aug 19, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Gesche TallenUNKNOWN German Paediatric Brain Tumour Consortium (HIT-Network)
Nov 5, 2016·Blood·Armin ZebischHeinz Sill
Jan 18, 2017·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Rolando A R VillacisSilvia R Rogatto
May 16, 2020·Human Molecular Genetics·Jamie L MaciaszekKim E Nichols
Nov 7, 2018·Der Pathologe·T Ripperger, B Schlegelberger
Sep 4, 2018·Oncotarget·Dawid WalerychAlicja Zylicz
Nov 1, 2016·Breast Cancer Research and Treatment·Olivia MoranJoanne Kotsopoulos
Oct 27, 2017·Journal of Medical Genetics·Mariette Renaux-PetelGaëlle Bougeard
Feb 9, 2017·American Journal of Medical Genetics. Part a·Tim RippergerChristian P Kratz
Oct 6, 2016·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Ariadne H A G OomsElizabeth J Perlman
Feb 25, 2020·Hematology/oncology Clinics of North America·Kristen E Schratz, Amy E DeZern
Jan 8, 2021·Hereditary Cancer in Clinical Practice·Ofelia CruzCinzia Lavarino
Jun 1, 2021·Familial Cancer·Brigitte SchlegelbergerMarcin Wlodarski