Premium
A child with Li–Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies
Author(s) -
Schlegelberger Brigitte,
Kreipe Hans,
Lehmann Ulrich,
Steinemann Doris,
Ripperger Tim,
Göhring Gudrun,
Thomay Kathrin,
Rump Andreas,
Di Donato Nataliya,
Suttorp Meinolf
Publication year - 2015
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25486
Subject(s) - loss of heterozygosity , li–fraumeni syndrome , germline mutation , uniparental disomy , allele , germline , genetics , medicine , cancer research , carcinogenesis , mutation , somatic cell , wilms' tumor , karyotype , biology , cancer , chromosome , gene
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom