A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor

Chalotte W Stecher, Kirsten Grønbaek, Henrik Hasle

6 Citationer (Scopus)

Abstract

A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition.

OriginalsprogEngelsk
TidsskriftPediatric Blood & Cancer
Vol/bind50
Udgave nummer3
Sider (fra-til)701-3
Antal sider3
ISSN1545-5009
DOI
StatusUdgivet - mar. 2008
Udgivet eksterntJa

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