A child with Li–Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. Issue 8 (18th March 2015)

• Record Type: Journal Article
• Authors: Schlegelberger, Brigitte; Kreipe, Hans; Lehmann, Ulrich; Steinemann, Doris; Ripperger, Tim; Göhring, Gudrun; Thomay, Kathrin; Rump, Andreas; Di Donato, Nataliya; Suttorp, Meinolf
• Is Part Of: Pediatric blood & cancer. Volume 62:Issue 8(2015:Aug.)
• Page Start: 1481
• Page End: 1484
• Publication Date: 2015-03-18
• Subjects: choroid plexus carcinoma -- leukemia -- Li–Fraumeni syndrome -- sarcoma -- TP53 -- uniparental disomy (UPD); Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.25486
• Languages: English
• ISSNs: 1545-5009

Abstract

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. Pediatr Blood Cancer 2015;62:1481–1484. © 2015 Wiley Periodicals, Inc.