In:
Pediatric Blood & Cancer, Wiley, Vol. 62, No. 8 ( 2015-08), p. 1481-1484
Kurzfassung:
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.
Materialart:
Online-Ressource
ISSN:
1545-5009
,
1545-5017
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2015
ZDB Id:
2130978-4
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