Premium
A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor
Author(s) -
Stecher Chalotte W.,
Grønbæk Kirsten,
Hasle Henrik
Publication year - 2008
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.21074
Subject(s) - proband , medicine , leydig cell tumor , cd99 , mutation , phenotype , malignancy , cancer research , germline mutation , splice site mutation , gene , genetics , pathology , leydig cell , biology , exon , alternative splicing , immunohistochemistry , hormone , luteinizing hormone , vimentin
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. Pediatr Blood Cancer 2008;50:701–703. © 2006 Wiley‐Liss, Inc.