In:
Pediatric Blood & Cancer, Wiley, Vol. 62, No. 8 ( 2015-08), p. 1481-1484
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.
Type of Medium:
Online Resource
ISSN:
1545-5009
,
1545-5017
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2130978-4